18,876 results match your criteria arm chromosome

Genomic basis of syndromic short stature in an Algerian patient cohort.

Am J Med Genet A 2021 Oct 13. Epub 2021 Oct 13.

Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

Short stature is one of the most common reasons for a referral to the pediatric endocrinology clinic. Thousands of patients with short stature are assessed annually at the Department of Endocrine and Metabolic Diseases (DEMD) at Bab el Oued University Hospital in Algiers, Algeria. However, diagnostic rates in patients with syndromic short stature are not optimal due to the unavailability of next generation sequencing (NGS) technology. Read More

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October 2021

The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.

Blood Adv 2021 Oct 12. Epub 2021 Oct 12.

Belgian Cancer Registry, Brussels, Belgium.

Myelodysplastic syndromes (MDS) represent a heterogeneous group of clonal hematopoietic stem-cell disorders characterized by ineffective hematopoiesis leading to peripheral cytopenias and in a substantial proportion of cases to acute myeloid leukemia. The deletion of the long arm of chromosome 11, del(11q), is a rare but recurrent clonal event in MDS. Here, we detail the largest series of 113 cases of MDS and myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN) harboring a del(11q) analyzed at clinical, cytological, cytogenetic and molecular levels. Read More

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October 2021

Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion.

Front Genet 2021 23;12:696624. Epub 2021 Sep 23.

Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.

Patients with deletions involving the long arm of chromosome 1 are rare, and the main aim of this study was to refine the genotype-phenotype correlation. In this report, a 28-year-old pregnant woman, gravida 2 para 1, at 25 weeks of gestation underwent ultrasound examination in our institute. The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate; (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) coronary sinus dilatation with persistent left superior vena cava, ventricular septal defect and unroofed coronary sinus syndrome. Read More

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September 2021

Co-existing bipolar disease and 17q12 deletion: a rare case report.

Psychiatr Genet 2021 Oct 7. Epub 2021 Oct 7.

Department of Psychiatry Department of Medical Genetics, Cerrahpaşa School of Medicine, Istanbul University-Cerrahpaşa, Istanbul, Turkey.

Background: 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1. Read More

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October 2021

Chronic lymphocytic leukemia: 2022 update on diagnostic and therapeutic procedures.

Am J Hematol 2021 Oct 9. Epub 2021 Oct 9.

Department I of Internal Medicine, University of Cologne Center for Integrated Oncology Aachen Bonn Köln Düsseldorf Center of Excellence on "Cellular Stress Responses in Aging-Associated Diseases" University of Cologne.

Disease Overview: Chronic lymphocytic leukemia (CLL) is one of the most frequent types of leukemia. It typically occurs in elderly patients and has a highly variable clinical course. Leukemic transformation is initiated by specific genomic alterations that interfere with the regulation of proliferation and of apoptosis in clonal B-cells. Read More

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October 2021

6q deletion is frequent but unrelated to patient prognosis in breast cancer.

Breast Cancer 2021 Oct 8. Epub 2021 Oct 8.

Institute of Pathology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.

Background: Deletions involving the long arm of chromosome 6 have been reported to occur in breast cancer, but little is known about the clinical relevance of this alteration.

Methods: We made use of a pre-existing tissue microarray with 2197 breast cancers and employed a 6q15/centromere 6 dual-labeling probe for fluorescence in situ (FISH) analysis RESULTS: Heterozygous 6q15 deletions were found in 202 (18%) of 1099 interpretable cancers, including 19% of 804 cancers of no special type (NST), 3% of 29 lobular cancers, 7% of 41 cribriform cancers, and 28% of 18 cancers with papillary features. Homozygous deletions were not detected. Read More

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October 2021

A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.

Mol Genet Genomic Med 2021 Oct 8:e1821. Epub 2021 Oct 8.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

Background: Unbalanced translocations between the q arm of chromosomes 5 and 13 are exceedingly rare and there is only one reported case with distal trisomy 5q/monosomy 13q. In this report, we describe a second patient with a similar rearrangement arising from a paternal balanced translocation.

Methods: Karyotype analysis was performed on the proband and their parents. Read More

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October 2021

Current opportunities and new horizons into the genetic study of infertility.

Rom J Morphol Embryol 2021 Jan-Mar;62(1):191-200

Department of Genetics, Doctoral School, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania;

Introduction: An estimated 12.5% of couples experiencing fertility problems and almost 12% of reproductive age women have turned to health services at least once due to infertility. First trimester miscarriage is the most common clinical manifestation of infertility associated with a genetic cause. Read More

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October 2021

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.

Mol Syndromol 2021 Aug 15;12(5):312-320. Epub 2021 Jul 15.

Department of Clinical Genetics, Federal University of São Paulo, São Paulo, Brazil.

Duplication of the distal 1q and 4p segments are both characterized by the presence of intellectual disability/neurodevelopmental delay and dysmorphisms. Here, we describe a male with a complex chromosome rearrangement (CCR) presenting with overlapping clinical findings between these 2 syndromes. In order to better characterize this CCR, classical karyotyping, FISH, and chromosomal microarray analysis were performed on material from the patient and his parents, which revealed an unbalanced karyotype with duplications at 1q41q43 and 4p15. Read More

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Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Mol Syndromol 2021 Aug 20;12(5):305-311. Epub 2021 Jul 20.

Hospital General de Mexico, National Autonomous University of Mexico, Mexico City, Mexico.

Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including the and genes, is sufficient to cause this syndrome. Read More

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Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.

Mol Syndromol 2021 Aug 15;12(5):300-304. Epub 2021 Jul 15.

2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.

A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. Clinical suspicion prompted genetic investigations for Silver-Russell syndrome and related disorders. SNP array analysis led to the diagnosis of an approximately 10-Mb large deletion of the long arm in chromosome 16q22. Read More

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Erratum: Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis.


J Vis Exp 2021 10 1(176). Epub 2021 Oct 1.

An erratum was issued for: Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis. The Protocol and Representaive Results sections were updated. In the Protocol, step 3. Read More

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October 2021

Genetic identification and characterization of chromosomal regions for kernel length and width increase from tetraploid wheat.

BMC Genomics 2021 Sep 30;22(1):706. Epub 2021 Sep 30.

State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China, Triticeae Research Institute, Sichuan Agricultural University, Chengdu, 611130, China.

Background: Improvement of wheat gercTriticum aestivum L.) yield could relieve global food shortages. Kernel size, as an important component of 1000-kernel weight (TKW), is always a significant consideration to improve yield for wheat breeders. Read More

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September 2021

5q Deletion Myelodysplastic Syndrome in a Young Male Patient.

Cureus 2021 Aug 26;13(8):e17466. Epub 2021 Aug 26.

Hematology and Medical Oncology, Rutgers-New Jersey Medical School/Trinitas Regional Medical Center, Elizabeth, USA.

Myelodysplastic syndromes (MDS) are a diverse group of hematopoietic stem cell malignancies with various phenotypic variability that are categorized by abnormal differentiation of one or multiple cell lines of the bone marrow. A large part of the phenotypic heterogeneity is in part due to the wide set of genetic defects related to MDS. Though clinically, MDS is centered on diagnostic measures that do not incorporate molecular genetic data, an isolated deletion of the long arm of chromosome 5 (del(5q)) is the only subset of MDS to be identified by genetic defects. Read More

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Cytogenetic approaches provide evidence of a conserved diploid number and cytological differences between Proceratophrys species (Anura: Odontophrynidae).

An Acad Bras Cienc 2021 24;93(4):e20201650. Epub 2021 Sep 24.

Universidade Estadual Paulista, Departamento de Biologia Geral e Aplicada, Instituto de Biociências, Avenida 24A, 1515, Bela Vista, 13506-900 Rio Claro, SP, Brazil.

Taxonomic and cytogenetic aspects of Proceratophrys have not been thoroughly clarified in the literature; thus, the objective of the present study was to provide unprecedent karyotype data regarding P. schirchi, P. laticeps and P. Read More

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October 2021

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

Mol Genet Genomic Med 2021 Sep 28:e1645. Epub 2021 Sep 28.

Service de Biochimie et Génétique, AP-HP. Hôpitaux Universitaires Henri Mondor, Hôpital Henri Mondor, Créteil, France.

Background: Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, interstitial deletions including CNTNAP2 (aliases Caspr2, KIAA0868, and NRXN4) and excluding the SHH region are less common.

Methods: We report the clinical and molecular characterization associated with pure 7q35 and 7q35q36. Read More

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September 2021

Measurement of Chromosomal Arms and FISH Reveal Complex Genome Architecture and Standardized Karyotype of Model Fish, Genus .

Cells 2021 Sep 7;10(9). Epub 2021 Sep 7.

Department of Cell Biology, Faculty of Science, Charles University, 12843 Prague, Czech Republic.

The widely distributed ray-finned fish genus is very well known due to its unique biological characteristics such as polyploidy, clonality, and/or interspecies hybridization. These biological characteristics have enabled species to be successfully widespread over relatively short period of evolutionary time. Therefore, this fish model deserves to be the center of attention in the research field. Read More

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September 2021

Phase 1 study of the histone deacetylase inhibitor entinostat plus clofarabine for poor-risk Philadelphia chromosome-negative (newly diagnosed older adults or adults with relapsed refractory disease) acute lymphoblastic leukemia or biphenotypic leukemia.

Leuk Res 2021 Sep 10;110:106707. Epub 2021 Sep 10.

Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins Hospital, Baltimore, MD, United States.

Purpose: Despite advances in immunotherapies, the prognosis for adults with Philadelphia chromosome-negative, newly diagnosed (ND) or relapsed/refractory (R/R) acute lymphoblastic leukemia/acute biphenotypic leukemia (ALL/ABL) remains poor. The benzamide derivative entinostat inhibits histone deacetylase and induces histone hyperacetylation. The purine nucleoside analogue clofarabine is FDA-approved for R/R ALL in children 1-21 years of age. Read More

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September 2021

High resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

Hum Mol Genet 2021 Sep 24. Epub 2021 Sep 24.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy clinically characterized by weakness in the facial, shoulder girdle and upper arm muscles. FSHD is caused by chromatin relaxation of the D4Z4 macrosatellite repeat, mostly by a repeat contraction, facilitating ectopic expression of DUX4 in skeletal muscle. Genetic diagnosis for FSHD is generally based on the sizing and haplotyping of the D4Z4 repeat on chromosome 4 by Southern blotting, molecular combing or single-molecule optical mapping, which is usually straight forward but can be complicated by atypical rearrangements of the D4Z4 repeat. Read More

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September 2021

Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.

Front Genet 2021 1;12:716874. Epub 2021 Sep 1.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.

Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The precise genotype-phenotype correlations of different deletions has not been completely resolved. Ascertaining individuals with overlapping deletions and complex phenotypes may help to identify causative genes and improve understanding of 12q deletion syndromes. Read More

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September 2021

"A practical approach to dental care for patients with Wolf-Hirschhorn syndrome".

Spec Care Dentist 2021 Sep 19. Epub 2021 Sep 19.

Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.

Wolf-Hirschhorn syndrome is a polymalformative chromosomal disorder caused by a deletion in the distal region of the short arm of chromosome 4. The disease is considered rare (1/50,000 births) and predominantly affects females (2:1). In addition to the characteristic facial phenotype ("Greek warrior helmet"), its clinical manifestations include epilepsy, developmental and psychomotor delay, intellectual disability, cardiac and respiratory complications, and eating problems. Read More

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September 2021

13q14 Deletion and Its Effect on Prognosis of Chronic Lymphocytic Leukemia.

Cureus 2021 Aug 2;13(8):e16839. Epub 2021 Aug 2.

Internal Medicine, Advent Health and Orlando Health Hospital/JC Medical Center, Orlando, USA.

Chronic lymphocytic leukemia (CLL) is the most common leukemia affecting adults. CLL results due to uncontrolled accumulation of B lymphocytes in the body with the clinical spectrum ranging from comparatively benign disease to an aggressive form. The disease pathogenesis lies in molecular genetics, the most common alteration being the deletion in the long arm of chromosome 13, at position 14 (13q14) region. Read More

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X-Linked Tumor Suppressor Genes Act as Presumed Contributors in the Sex Chromosome-Autosome Crosstalk in Cancers.

Cancer Invest 2021 Sep 29:1-8. Epub 2021 Sep 29.

Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, India.

Since the human genome contains about 6% of tumor suppressor genes (TSGs) and the X chromosome alone holds a substantial share (2%), herein, we have discussed exclusively the relative contribution of X-linked human TSGs that appear to be primarily involved in 32 different cancer types. Our analysis showed that, (a) the majority of X-linked TSGs are primarily involved in the dysregulation of breast cancer, followed by prostate cancer, (b) Despite being escaped from X chromosome inactivation (XCI), a clear pattern of altered promoter methylation linked to the mutational burden was observed among them. (c) X-linked TSGs (mainly on the q-arm) maintain spatial and genetic interactions with certain autosomal loci. Read More

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September 2021

Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.

Int J Immunopathol Pharmacol 2021 Jan-Dec;35:20587384211039400

Department of Pediatrics, Oncology and Hematology, 37808Medical University of Lodz, Lodz, Poland.

18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a 12-year-old girl with severe phenotype of 18q deletion syndrome, frequent infections, type 1 diabetes, autoimmune thyroiditis, and vitiligo. At first, the patient was diagnosed with selective immunoglobulin A (sIgAD) which explained her susceptibility to both infections and autoimmunity. Read More

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September 2021

Hereditary Persistence of Alpha-Fetoprotein in Chronic Liver Disease-Confusing Genes!

J Clin Exp Hepatol 2021 Sep-Oct;11(5):616-618. Epub 2020 Dec 30.

Institute of Liver Disease and Transplantation, Dr. Rela Institute and Medical Centre, Bharath Institute of Higher Education and Research, Chennai, Tamilnadu, India.

Alpha-fetoprotein (AFP) is a glycoprotein secreted by the embryonic liver and is expressed in tumours with high mitotic index such as hepatocellular carcinoma (HCC) and germ cell tumours. Detection of elevated AFP is strongly associated with underlying HCC or occasionally germ cell tumour. Modest elevation of AFP can be observed in patients with chronic viral hepatitis particularly with active replication. Read More

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December 2020

Targeting chromosome trisomy for chromosome editing.

Sci Rep 2021 Sep 10;11(1):18054. Epub 2021 Sep 10.

Department of Chemistry, Graduate School of Science, Tokyo Metropolitan University, Minamiosawa 1-1, Hachioji-shi, Tokyo, 192-0397, Japan.

A trisomy is a type of aneuploidy characterised by an additional chromosome. The additional chromosome theoretically accepts any kind of changes since it is not necessary for cellular proliferation. This advantage led us to apply two chromosome manipulation methods to autosomal trisomy in chicken DT40 cells. Read More

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September 2021

Y chromosomal noncoding RNAs regulate autosomal gene expression via piRNAs in mouse testis.

BMC Biol 2021 09 9;19(1):198. Epub 2021 Sep 9.

Centre for Cellular and Molecular Biology (CCMB), Uppal Road, Hyderabad, Telangana, 500007, India.

Background: Deciphering the functions of Y chromosome in mammals has been slow owing to the presence of repeats. Some of these repeats transcribe coding RNAs, the roles of which have been studied. Functions of the noncoding transcripts from Y chromosomal repeats however, remain unclear. Read More

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September 2021

Targeted Therapy for RET Fusion Lung Cancer: Breakthrough and Unresolved Issue.

Front Oncol 2021 23;11:704084. Epub 2021 Aug 23.

Department of Thoracic Oncology, National Hospital Organization Kyushu Cancer Center, Fukuoka, Japan.

Molecular drugs targeting mutated or rearranged oncogene drivers have become one of the standard recognized treatments in patients with advanced and recurrent non-small cell lung cancer. is located in the long arm of human chromosome 10 and encodes a receptor tyrosine kinase protein, and RET fusion-positive lung adenocarcinoma occurs in 1%-2% of cases. Clinical trials of multikinase inhibitors, including cabozantinib, vandetanib, sorafenib, and lenvatinib, that inhibit RET oncogene activity have shown their antitumor efficacy. Read More

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Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Med 2021 Sep 6;13(1):145. Epub 2021 Sep 6.

Division of Oncology, Department of Medicine, Stanford University School of Medicine, 269 Campus Drive, Stanford, CA, 94305-5151, USA.

We developed a sensitive sequencing approach that simultaneously profiles microsatellite instability, chromosomal instability, and subclonal structure in cancer. We assessed diverse repeat motifs across 225 microsatellites on colorectal carcinomas. Our study identified elevated alterations at both selected tetranucleotide and conventional mononucleotide repeats. Read More

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September 2021