682 results match your criteria Molecular Cytogenetics [Journal]


Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.

Mol Cytogenet 2019 8;12. Epub 2019 Feb 8.

1Laboratory of Human cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Tunisia.

Background: Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18 by Fluorescence in situ hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH). Read More

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http://dx.doi.org/10.1186/s13039-019-0414-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368812PMC
February 2019

Pathway-based classification of genetic diseases.

Mol Cytogenet 2019 4;12. Epub 2019 Feb 4.

Mental Health Research Center, 117152 Moscow, Russia.

Background: In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is "gene-centric" and "factor-centric"; a disease may be, thereby, designated as monogenic, oligogenic or polygenic/multifactorial. Chromosomal diseases/syndromes and abnormalities are generally considered apart from these designations due to distinctly different formation mechanisms and simultaneous encompassing from several to several hundreds of co-localized genes. Read More

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http://dx.doi.org/10.1186/s13039-019-0418-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362588PMC
February 2019

A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving and .

Mol Cytogenet 2019 1;12. Epub 2019 Feb 1.

Department of Pathology, Nelson Hospital, 115 Kawai St, Nelson South, Nelson, 7010 New Zealand.

Background: Nodal marginal zone B-cell lymphoma is a rare entity in which the cytogenetic findings are not well defined. The t(2;14)(p24;q32) has previously been reported in three patients with blastic mantle cell lymphoma and one patient with follicular lymphoma. This rearrangement has not been reported previously in a patient with a diagnosis of nodal marginal zone B-cell lymphoma. Read More

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http://dx.doi.org/10.1186/s13039-019-0419-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359751PMC
February 2019
1 Read

Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the and genes.

Mol Cytogenet 2019 31;12. Epub 2019 Jan 31.

2División de Genética, Centro de investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, CIBO-IMSS, Guadalajara, Jalisco Mexico.

Background: The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, generally encompassing the and genes (minimal deleted region), but at times also including the gene. The latter, larger type of deletions are associated with worse prognosis. Read More

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http://dx.doi.org/10.1186/s13039-019-0417-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357463PMC
January 2019
1 Read

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes.

Mol Cytogenet 2019 9;12. Epub 2019 Jan 9.

1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China.

Background: Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosing of uncommon abnormal sex chromosome abnormalities in prenatal cases.

Case Presentation: A 26-year-old healthy woman was referred to our centre at 24 weeks of gestation age. Read More

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http://dx.doi.org/10.1186/s13039-018-0413-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327517PMC
January 2019
2 Reads

The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier.

Mol Cytogenet 2018 29;11:63. Epub 2018 Dec 29.

Unità di Medicina della Riproduzione - Centro HERA, via Barriera del Bosco n 51/53 95030 Sant Agata Li Battiati, Catania, Italy.

Background: The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chromosomally abnormal. In case of PGD for structural chromosome indication (PGR-SR), the normal/balanced embryos are transferred in the maternal uterus. This protocol is valid and widely applied for autosomal chromosome translocation. Read More

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http://dx.doi.org/10.1186/s13039-018-0409-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310935PMC
December 2018
2 Reads

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Mol Cytogenet 2018 29;11:62. Epub 2018 Dec 29.

1Institute of Human Genetics, University Medical Center, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

Background: Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported.

Case Presentation: Here we report a 5½-year-old boy with clinical features of Down syndrome including distinct craniofacial dysmorphism and sandal gaps as well as developmental delay. Read More

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http://dx.doi.org/10.1186/s13039-018-0410-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980PMC
December 2018

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

Mol Cytogenet 2018 24;11:61. Epub 2018 Dec 24.

Rett Syndrome Europe, https://www.rettsyndrome.eu/.

Background: VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provides clues on molecular and cellular mechanisms for a variety of rare genetic/genomic disorders. Read More

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http://dx.doi.org/10.1186/s13039-018-0412-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304760PMC
December 2018

Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.

Mol Cytogenet 2018 20;11:60. Epub 2018 Dec 20.

3Department of Genetics, University of Alabama at Birmingham, 720 20th St. S, Birmingham, AL 35294 USA.

Background: Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition may be clinically silent. We present a case of maternal UPD for chromosome 6, a rare condition previously reported less than 20 times. Read More

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http://dx.doi.org/10.1186/s13039-018-0411-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302445PMC
December 2018

The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.

Mol Cytogenet 2018 3;11:59. Epub 2018 Dec 3.

1Women's Hospital, School of Medicine Zhejiang University, 1, Xueshi Road, Hangzhou Zhejiang, 310006 People's Republic of China.

Background: Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false positive and false negative rates. Unfortunately, recent studies suggested that the NIPT achieved lower accuracy in sex chromosomal aneuploidies (SCAs) detection than autosomal aneuploidies detection. BGISEQ-500 powered by Combinatorial Probe-Anchor Synthesis (CPAS) and DNA Nanoballs (DNBs) technology that combined linear amplification and rolling circle replication to reduce the error rate while enhancing the signal. Read More

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http://dx.doi.org/10.1186/s13039-018-0407-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278040PMC
December 2018
1 Read

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects.

Mol Cytogenet 2018 28;11:58. Epub 2018 Nov 28.

Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

Background: This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs.

Results: Among the 151 VSD cases, 79 (52.3%) had isolated defects and 72 (47. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s13039-018-0408-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264052PMC
November 2018
14 Reads

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.

Mol Cytogenet 2018 6;11:57. Epub 2018 Nov 6.

2Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

Background: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s13039-018-0406-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219057PMC
November 2018
7 Reads

Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm.

Mol Cytogenet 2018 19;11:56. Epub 2018 Oct 19.

Department of Pathology, UmassMemorial Medical Center, Worcester, MA USA.

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm. Read More

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https://molecularcytogenetics.biomedcentral.com/track/pdf/10
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https://molecularcytogenetics.biomedcentral.com/articles/10.
Publisher Site
http://dx.doi.org/10.1186/s13039-018-0405-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195751PMC
October 2018
4 Reads

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature.

Mol Cytogenet 2018 19;11:55. Epub 2018 Oct 19.

1Department of Life Sciences, Bengbu Medical College, 2600 Donghai Avenue, Bengbu, Anhui 233030 People's Republic of China.

Background: Deletions involving the long arm of chromosome 18 have been associated with a highly variable phenotypic spectrum that is related to the extent of the deleted region. Duplications in chromosomal region 4p16.3 have also been shown to cause 4p16. Read More

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http://dx.doi.org/10.1186/s13039-018-0404-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194714PMC
October 2018
2 Reads

Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.

Mol Cytogenet 2018 24;11:54. Epub 2018 Sep 24.

5Kayseri Training and Research Hospital, Department of Medical Genetics, Kayseri, Turkey.

Background: Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also contributes to the identification of genes that are responsible for the phenotypes in the new copy number variations. Read More

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http://dx.doi.org/10.1186/s13039-018-0402-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154794PMC
September 2018
3 Reads

13q mosaic deletion including associated to mild phenotype and no cancer outcome - case report and review of the literature.

Mol Cytogenet 2018 19;11:53. Epub 2018 Sep 19.

1Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145 Milan, Italy.

Background: The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial dysmorphisms, congenital malformations, and increased risk of retinoblastoma.

Case Presentation: Here, we report on a teenage boy with a mild phenotype characterized by obesity, hyperactivity, dysphagia, dysgraphia, sleep disturbance, and minor dysmorphic features (round face, bushy eyebrows, and stubby hands). Array Comparative Genomic Hybridization on blood identified a mosaic 13q14. Read More

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http://dx.doi.org/10.1186/s13039-018-0401-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148795PMC
September 2018
2 Reads

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.

Mol Cytogenet 2018 6;11:52. Epub 2018 Sep 6.

1School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.

Background: Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis.

Case Presentation: We described two families with copy number gain in which FISH analysis with the specific subtelomeric probe of chromosome 4q and 7q evidenced a third signal at band 13p11.2. Read More

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http://dx.doi.org/10.1186/s13039-018-0400-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127936PMC
September 2018
2 Reads

Chromosomes of Asian cyprinid fishes: cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini.

Mol Cytogenet 2018 4;11:51. Epub 2018 Sep 4.

6Laboratory of Fish Genetics, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Rumburská 89, 277 21 Liběchov, Czech Republic.

Background: Polyploidy, although still poorly explored, represents an important evolutionary event in several cyprinid clades. Herein, and - representatives of the paleotetraploid tribe Probarbini, were characterized both by conventional and molecular cytogenetic methods.

Results: Alike most other paleotetraploid cyprinids (with 2n = 100), both species studied here shared 2n = 98 but differed in karyotypes: displayed 18m + 34sm + 46st/a; NF = 150, while exhibited 26m + 14sm + 58st/a; NF = 138. Read More

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http://dx.doi.org/10.1186/s13039-018-0399-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123905PMC
September 2018
13 Reads

Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a likely pathogenic variant.

Mol Cytogenet 2018 28;11:50. Epub 2018 Aug 28.

2Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada.

Background: Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural alteration resulting from germline chromoanagenesis-type mechanisms are limited.

Case Presentation: We report a two-year eleven-month old male presenting with epilepsy, ataxia and dysmorphic features of unknown etiology. Read More

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http://dx.doi.org/10.1186/s13039-018-0394-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6114485PMC
August 2018
12 Reads

Recombinant chromosome 4 in two fetuses - case report and literature review.

Mol Cytogenet 2018 22;11:48. Epub 2018 Aug 22.

1Prenatal Diagnostic Center, International Peace Maternity & Child Health Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai, China.

Background: Recombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome were published in literature. We report the first kindred of rec (4) syndrome analyzed using copy number variation sequencing (CNV-seq). Read More

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http://dx.doi.org/10.1186/s13039-018-0393-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103979PMC
August 2018
22 Reads

Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies.

Mol Cytogenet 2018 22;11:47. Epub 2018 Aug 22.

1Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, 511400 Guangdong China.

Background: Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little studies demonstrate the feasibility and clinical application of a NIPT for fetal aneuploidy screening in twin pregnancies.

Results: In this study, we have finished 432 twin pregnancies screening by NIPT. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
Publisher Site
http://dx.doi.org/10.1186/s13039-018-0392-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103871PMC
August 2018
14 Reads

CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.

Mol Cytogenet 2018 22;11:46. Epub 2018 Aug 22.

1Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, Colombia.

Background: Array-based comparative genome hybridization (array CGH) is a first-line test used in the genetic evaluation of individuals with multiple anomalies, developmental delays, and cognitive deficits. In this study, we analyzed clinical indications and findings of array CGH tests of Colombian individuals forwarded to a reference laboratory over a period of seven years in order to evaluate the diagnostic performance of the test in our population.

Results: The results of 1374 array CGH analyses of Colombian individuals were referred to the Andean Reference Institute in Colombia (Instituto de Referencia Andino) during a 7-year period (2009-2015). Read More

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http://dx.doi.org/10.1186/s13039-018-0398-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104019PMC
August 2018
9 Reads

Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform.

Mol Cytogenet 2018 25;11:49. Epub 2018 Aug 25.

2Department of gynaecology and obstetrics, The Third Affiliated Hospital of Zhengzhou University, No. 7 Front Kangfu Street, Er'qi District, Zhengzhou, 450052 China.

Background: Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not be used to diagnose trisomies. The result of NIPT for an individual woman in most genome-wide methods is calculated as a Z-score. Read More

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http://dx.doi.org/10.1186/s13039-018-0397-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109306PMC
August 2018
5 Reads

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Mol Cytogenet 2018 17;11:45. Epub 2018 Aug 17.

1Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Millet cad.34039 Capa, İstanbul, Turkey.

Background: Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin.

Results: Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Read More

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http://dx.doi.org/10.1186/s13039-018-0395-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098576PMC
August 2018
2 Reads

Application of chromosomal microarray analysis in products of miscarriage.

Mol Cytogenet 2018 17;11:44. Epub 2018 Aug 17.

2Department of Obstetrics and Gynecology, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, Nanjing, 210008 Jiangsu China.

Background: Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and somewhat of low cost-effectiveness. As chromosomal microarray analysis has been recommended to be applied on miscarriage products, we managed a retrospective study on our experience investigate the potential impact of this technique on previous guidelines and our present management on miscarried couples and products. Read More

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http://dx.doi.org/10.1186/s13039-018-0396-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098645PMC
August 2018
13 Reads
2.662 Impact Factor

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Mol Cytogenet 2018 1;11:43. Epub 2018 Aug 1.

1Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, 1601 NW 12th Avenue, Miami, FL 33136 USA.

Background: Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes.

Case Presentation: We report a 10-month-old boy with short stature, minor anomalies and mild motor delay. The patient had a monosomy 21 and duplication of the 21q22. Read More

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http://dx.doi.org/10.1186/s13039-018-0390-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090943PMC
August 2018
10 Reads

Submicroscopic chromosomal imbalances contribute to early abortion.

Mol Cytogenet 2018 21;11:41. Epub 2018 Jul 21.

Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, NO. 26 Daoqian Street, Suzhou, 215002 Jiangsu Province China.

Background: Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear. This study aims to find out whether submicroscopic chromosomal imbalances contribute to early abortion. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s13039-018-0386-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054741PMC
July 2018
15 Reads

An uncommon t(9;11)(p24;q22) with monoallelic loss of and genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.

Mol Cytogenet 2018 11;11:40. Epub 2018 Jul 11.

1Bone Marrow Transplatation Center (CEMO), National Cancer Institute (INCA), Rio de Janeiro, Brazil.

Background: Myelodysplastic syndrome (MDS) is rare in the pediatric age group and it may be associated with inheritable bone marrow failure (BMF) such as Fanconi anemia (FA). FA is a rare multi-system genetic disorder, characterized by congenital malformations and progressive BMF. Patients with FA usually present chromosomal aberrations when evolving to MDS or acute myeloid leukemia (AML). Read More

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http://dx.doi.org/10.1186/s13039-018-0389-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042331PMC
July 2018
16 Reads

Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction.

Mol Cytogenet 2018 4;11:33. Epub 2018 Jun 4.

1Nanfang Hospital, Southern Medical University, Guangzhou, 510515 Guangdong China.

Background: Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18-32 weeks.

Methods: This study includes singleton fetuses with the estimated fetal weight (EFW) using the formula of Hadlock C below the 10th percentile for gestational age. FGRs without structural anomalies were selected, and the ones at high risk of noninvasive prenatal testing for trisomy 13, 18 and 21 would be excluded. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
Publisher Site
http://dx.doi.org/10.1186/s13039-018-0382-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987400PMC
June 2018
23 Reads

Characterization of chromosome composition of sugarcane in nobilization by using genomic in situ hybridization.

Mol Cytogenet 2018 7;11:35. Epub 2018 Jun 7.

1National Engineering Research Center for Sugarcane, Fujian Agriculture and Forestry University, Fuzhou, China.

Background: Interspecific hybridization is an effective strategy for germplasm innovation in sugarcane. Nobilization refers to the breeding theory of development and utilization of wild germplasm. is the main donor of resistance and adaptive genes in the nobilization breeding process. Read More

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http://dx.doi.org/10.1186/s13039-018-0387-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992832PMC
June 2018
1 Read

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

Mol Cytogenet 2018 20;11:39. Epub 2018 Jun 20.

1Clinical Institute of Medical Genetics, University Medical Center Ljubljana, Ljubljana, Slovenia.

Background: Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16. Read More

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http://dx.doi.org/10.1186/s13039-018-0388-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011332PMC
June 2018
5 Reads

Erratum: Publisher Correction: Is DNA methylation the new guardian of the genome?

Authors:
Robert M Hoffman

Mol Cytogenet 2018 13;11:38. Epub 2018 Jun 13.

1AntiCancer Inc., 7917 Ostrow Street, San Diego, CA 92111 USA.

[This corrects the article DOI: 10.1186/s13039-017-0314-8.]. Read More

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http://dx.doi.org/10.1186/s13039-018-0385-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001167PMC

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).

Mol Cytogenet 2018 13;11:37. Epub 2018 Jun 13.

CapitalBio Genomics Co., Ltd., Dongguan, 532808 China.

Background: Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive detection of foetal sub-chromosomal duplications and deletions beyond common aneuploidies.

Case Presentation: A 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and Child Health Care Hospital. Read More

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http://dx.doi.org/10.1186/s13039-018-0381-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001049PMC
June 2018
14 Reads

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Mol Cytogenet 2018 7;11:34. Epub 2018 Jun 7.

1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Background: Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.

Case Presentation: We present a family, where the non-affected father and daughter were found, using FISH and karyotyping, to be carriers of a three-way complex chromosomal rearrangement [t(6;7;10)(q16.2;q34;q26. Read More

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http://dx.doi.org/10.1186/s13039-018-0384-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991433PMC
June 2018
21 Reads

An improved method for inducing prometaphase chromosomes in plants.

Mol Cytogenet 2018 10;11:32. Epub 2018 May 10.

1Laboratory of Genetics and Plant Breeding, Graduate School of Horticulture, Chiba University, Matsudo, Chiba 271-8510 Japan.

Background: Detailed karyotyping using metaphase chromosomes in melon ( L.) remains a challenge because of their small chromosome sizes and poor stainability. Prometaphase chromosomes, which are two times longer and loosely condensed, provide a significantly better resolution for fluorescence in situ hybridization (FISH) than metaphase chromosomes. Read More

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http://dx.doi.org/10.1186/s13039-018-0380-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946395PMC

Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems.

Mol Cytogenet 2018 10;11:31. Epub 2018 May 10.

2Center for Molecular Medicine and Genomics, Wayne State University School of Medicine, Detroit, MI 48201 USA.

Background: In the past 15 years, impressive progress has been made to understand the molecular mechanism behind aneuploidy, largely due to the effort of using various -omics approaches to study model systems (e.g. yeast and mouse models) and patient samples, as well as the new realization that chromosome alteration-mediated genome instability plays the key role in cancer. Read More

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http://dx.doi.org/10.1186/s13039-018-0376-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946397PMC
May 2018
2 Reads

Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.

Mol Cytogenet 2018 9;11:30. Epub 2018 May 9.

2Laboratorio de Citogenética, Departamento de Genética Humana, Instituto Nacional de Pediatría, Ciudad de México, México.

Background: In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Read More

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http://dx.doi.org/10.1186/s13039-018-0374-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941813PMC
May 2018
8 Reads

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

Mol Cytogenet 2018 9;11:29. Epub 2018 May 9.

1Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, V Uvalu 84, 15006 Prague 5, Czech Republic.

Background: With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. Read More

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http://dx.doi.org/10.1186/s13039-018-0377-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941596PMC
May 2018
15 Reads

Loss of gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.

Mol Cytogenet 2018 8;11:28. Epub 2018 May 8.

1Eijkman Institute for Molecular Biology, Jakarta, Indonesia.

Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of gene located at the 9p24.3 region. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
Publisher Site
http://dx.doi.org/10.1186/s13039-018-0379-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941566PMC
May 2018
10 Reads

Molecular cytogenetic identification of three rust-resistant wheat- partial amphiploids.

Mol Cytogenet 2018 2;11:27. Epub 2018 May 2.

State Key Laboratory of Crop Biology, Shandong Agriculture University, Tai'an, 271018 Shandong China.

Background: (2n = 10× = 70, JJJJJJJJJJ) is an important wild perennial species that has a unique gene pool with many desirable traits for common wheat. The partial amphiploids derived from wheat- set up a bridge for transferring valuable genes from into common wheat.

Results: In this study, genomic in situ hybridization (GISH), multicolor GISH (mcGISH) and fluorescence in situ hybridization (FISH) were used to analyze the genomic constitution of SN0389, SN0398 and SN0406, three octoploid accessions with good resistance to rust. Read More

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http://dx.doi.org/10.1186/s13039-018-0378-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5930962PMC
May 2018
4 Reads

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Mol Cytogenet 2018 27;11:26. Epub 2018 Apr 27.

1Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.

Background: Ring chromosome instability may influence a patient's phenotype and challenge its interpretation.

Results: Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). Read More

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http://dx.doi.org/10.1186/s13039-018-0375-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923029PMC
April 2018
3 Reads
1 Citation
2.660 Impact Factor

Correction to: Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Mol Cytogenet 2018 23;11:25. Epub 2018 Apr 23.

1Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, 250022 Shandong China.

[This corrects the article DOI: 10.1186/s13039-017-0349-x.]. Read More

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http://dx.doi.org/10.1186/s13039-018-0373-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5913866PMC
April 2018
7 Reads

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.

Mol Cytogenet 2018 4;11:24. Epub 2018 Apr 4.

1Institute of Reproduction and Stem Cell Engineering, Xiangya School of Medicine, Central South University, Changsha, Hunan 410078 People's Republic of China.

Background: 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 duplication with a clinical phenotype comparable to that of 1q43-q44 deletion are rarely reported. Moreover, pure 1q43-q44 deletions and duplications derived from balanced insertional translocation within the same family with precisely identified breakpoints have not been reported. Read More

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http://dx.doi.org/10.1186/s13039-018-0371-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883343PMC
April 2018
7 Reads

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.

Mol Cytogenet 2018 27;11:23. Epub 2018 Mar 27.

1Department of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of Medicine, 550 N. University Blvd, AOC 5001, Indianapolis, Indiana 46202 USA.

Background: Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurate, comprehensive genetic counseling. The purpose of this study is to highlight the unique findings of a patient with a 5p13.3-q11. Read More

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http://dx.doi.org/10.1186/s13039-018-0372-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870180PMC
March 2018
10 Reads

Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44).

Mol Cytogenet 2018 13;11:22. Epub 2018 Mar 13.

1Molecular Biology and Biotechnology Department, Human Genetics Division, Chromosomes Laboratory, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.

Background: Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. Read More

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http://dx.doi.org/10.1186/s13039-018-0370-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851247PMC
March 2018
8 Reads

3C and 3C-based techniques: the powerful tools for spatial genome organization deciphering.

Mol Cytogenet 2018 9;11:21. Epub 2018 Mar 9.

1Key Laboratory of Genetics, Breeding and Multiple Utilization of Corps, Ministry of Education, Fujian Provincial Key Laboratory of Haixia Applied Plant Systems Biology, Center for Genomics and Biotechnology, Fujian Agriculture and Forestry University, Fuzhou, Fujian China.

It is well known that the chromosomes are organized in the nucleus and this spatial arrangement of genome play a crucial role in gene regulation and genome stability. Different techniques have been developed and applied to uncover the intrinsic mechanism of genome architecture, especially the chromosome conformation capture (3C) and 3C-derived methods. 3C and 3C-derived techniques provide us approaches to perform high-throughput chromatin architecture assays at the genome scale. Read More

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http://dx.doi.org/10.1186/s13039-018-0368-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845197PMC
March 2018
4 Reads

Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.

Mol Cytogenet 2018 9;11:20. Epub 2018 Mar 9.

1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany.

Background: Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by two color fluorescence in situ hybridization (FISH), yet. In the latter case a critical region probe (CRP) is combined with a control probe for identification of the chromosome in question. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
Publisher Site
http://dx.doi.org/10.1186/s13039-018-0369-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845138PMC
March 2018
9 Reads

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.

Mol Cytogenet 2018 27;11:19. Epub 2018 Feb 27.

2Laboratory of Clinical Cytogenetics and Genomics, Department of Genetics, Yale School of Medicine, New Haven, CT 06520 USA.

Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Read More

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http://dx.doi.org/10.1186/s13039-018-0367-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828142PMC
February 2018
4 Reads

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.

Mol Cytogenet 2018 20;11:18. Epub 2018 Feb 20.

1Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, Shandong 250022 China.

Background: Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes. Here we describe a four-generation family in Shandong province of China with at least three patients sharing severe intellectual disability and developmental delay resulting from a derivative chromosome 22 originating from a balanced translocation (3;22) involving chromosomes 3q28q29 and 22q13.3. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s13039-017-0349-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819188PMC
February 2018
12 Reads

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

Mol Cytogenet 2018 7;11:17. Epub 2018 Feb 7.

4Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

Background: Nijmegen breakage syndrome is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, hypersensitivity to X-irradiation, and a high predisposition to cancer. Nibrin, the product of the gene, is part of the MRE11/RAD50 (MRN) complex that is involved in the repair of DNA double strand breaks (DSBs), and plays a critical role in the processing of DSBs in immune gene rearrangements, telomere maintenance, and meiotic recombination. NBS skin fibroblasts grow slowly in culture and enter early into senescence. Read More

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https://molecularcytogenetics.biomedcentral.com/articles/10.
Publisher Site
http://dx.doi.org/10.1186/s13039-018-0364-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803995PMC
February 2018
29 Reads