167 results match your criteria 4q35 deletion


Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.

Mol Cytogenet 2020 19;13:17. Epub 2020 May 19.

Servicio de Medicina Genética, Hospital General de Culiacán, Culiacán, Sin., Mexico.

Background: Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Read More

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Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.

BMC Med Genomics 2019 11 21;12(1):167. Epub 2019 Nov 21.

Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE. Av. Mariscal Sucre y Av. Mariana de Jesús, Sede Occidental, Bloque I, 2 floor, 170129, Quito, Ecuador.

Background: Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phenotype. Read More

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November 2019

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.

Autism Res 2020 02 6;13(2):199-206. Epub 2019 Nov 6.

Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder (ASD). We evaluated the role of rare copy number variations (CNVs) and exonic de novo variants, in a molecularly unexplored Brazilian cohort of 30 ASD trios (n = 90), by performing a meta-analysis of our findings in more than 20,000 patients from NDD cohorts. We identified three pathogenic CNVs: two duplications on 1q21 and 17p13, and one deletion on 4q35. Read More

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February 2020

Amplification of the and Are Coordinated and Play Important Roles in the Progression of Oral Squamous Cell Carcinomas.

Cancers (Basel) 2019 May 31;11(6). Epub 2019 May 31.

Department of Public Health, Chang Gung University, Tao-Yuan 33302, Taiwan.

Oral squamous cell carcinoma (OSCC) is a common cancer in Taiwan and worldwide. To provide some clues for clinical management of OSCC, 72 advanced-stage OSCCs were analyzed using two microarray platforms (26 cases with Affymetrix 500 K and 46 cases with Affymetrix SNP 6.0). Read More

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4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy.

Genome Res 2019 06 16;29(6):883-895. Epub 2019 May 16.

Istituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi" (INGM), 20122, Milan, Italy.

Despite increasing insights in genome structure organization, the role of DNA repetitive elements, accounting for more than two thirds of the human genome, remains elusive. Facioscapulohumeral muscular dystrophy (FSHD) is associated with deletion of D4Z4 repeat array below 11 units at 4q35.2. Read More

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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

J Med Genet 2019 09 22;56(9):590-601. Epub 2019 Apr 22.

Aix Marseille Univ, INSERM, MMG, Marseille Medical Genetics U1251, Marseille, France

Background: Subtelomeres are variable regions between telomeres and chromosomal-specific regions. One of the most studied pathologies linked to subtelomeric imbalance is facioscapulohumeral dystrophy (FSHD). In most cases, this disease involves shortening of an array of D4Z4 macrosatellite elements at the 4q35 locus. Read More

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September 2019

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.

J Pediatr Neurol 2018 Aug;16(4):222-231

Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia, United States.

Facioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of in skeletal muscles. Type 1 facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of D4Z4 repeats on 4q35, whereas type 2 FSHD is associated with mutations of the or gene in the presence of a disease-permissive 4qA haplotype. Read More

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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.

Genes (Basel) 2018 Sep 11;9(9). Epub 2018 Sep 11.

Centro Nacional de Genética Médica, ANLIS, Ciudad Autónoma de Buenos Aires 1425, Argentina.

Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10⁻30% of all CHD cases. Chromosomal abnormalities and copy number variants (CNVs) contribute to the disease risk in patients with syndromic and/or non-syndromic forms. Read More

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September 2018

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Clin Endocrinol (Oxf) 2018 03 10;88(3):425-431. Epub 2018 Jan 10.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brasil.

Objectives: The aetiology of congenital hypopituitarism (CH) is unknown in most patients. Rare copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology. Our aim was to study the presence of CNVs and their pathogenicity in patients with idiopathic CH associated with complex phenotypes. Read More

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Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion.

J Clin Res Pediatr Endocrinol 2017 12 17;9(4):380-386. Epub 2017 Jul 17.

University of California, Department of Pediatrics, Division of Genetics and Genomic Medicine, Irvine, California, USA.

We report a six-year-old boy who presented with short stature, microcephaly, dysmorphic features, and developmental delay and who was identified with a terminal deletion of 15q26.2q26.3 containing the insulin-like growth factor receptor (IGF1R) gene in addition to a terminal duplication of the 4q35. Read More

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December 2017

Prenatal diagnosis and genetic discoveries of an intracranial mixed neuronal-glial tumor: A case report and literature review.

Medicine (Baltimore) 2016 Nov;95(45):e5378

Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Department of Radiology, Peking University First Hospital Department of Pathology Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.

Background: Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms. Read More

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November 2016

A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.

Neuromuscul Disord 2016 Dec 19;26(12):844-852. Epub 2016 Sep 19.

Laboratorio de Biología Celular y Molecular, Fundación Allende, Argentina; Servicio de Genética Médica y Laboratorio Diagnóstico Biología Molecular, Sanatorio Allende, Córdoba, Argentina; Laboratorio de Genética y Biología Molecular, Facultad de Ciencias Químicas, Universidad Católica de Córdoba, Argentina. Electronic address:

Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy, develops following a complex interplay of genetic and epigenetic events. FSHD1, the more frequent genetic form, is associated with: (1) deletion of an integral number of 3.3 Kb (D4Z4) repeated elements at the chromosomal region 4q35, (2) a specific 4q35 subtelomeric haplotype denominated 4qA, and (3) decreased methylation of cytosines at the 4q35-linked D4Z4 units. Read More

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December 2016

Noncoding RNA-regulated gain-of-function of STOX2 in Finnish pre-eclamptic families.

Sci Rep 2016 08 24;6:32129. Epub 2016 Aug 24.

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, the Netherlands.

The familial forms of early onset pre-eclampsia and related syndromes (HELLP) present with hypertension and proteinuria in the mother and growth restriction of the fetus. Genetically, these clinically similar entities are caused by different founder-dependent, placentally-expressed paralogous genes. All susceptibility genes (STOX1, lincHELLP, INO80B) identified so far are master control genes that regulate an essential trophoblast differentiation pathway, but act at different entry points. Read More

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Derivation of FSHD1 affected human embryonic stem cell line Genea096.

Stem Cell Res 2016 Mar 11;16(2):531-3. Epub 2016 Feb 11.

Genea Biocells, Sydney, Australia.

The Genea096 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying a deletion in 4q35 with only 6 D4Z4 repeats by PGD linkage analysis, indicative of FSHD1. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 64% of cells expressed Nanog, 93% Oct4, 58% Tra1-60 and 93% SSEA4 and a Pluritest Pluripotency score of 39. Read More

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Derivation of FSHD1 affected human embryonic stem cell line Genea050.

Stem Cell Res 2016 Mar 11;16(2):503-6. Epub 2016 Feb 11.

Genea Biocells, Sydney, Australia.

The Genea050 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying a deletion in 4q35 with only 5 D4Z4 repeats by PGD linkage analysis, indicative of FSHD1. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XY and STR analysis demonstrated a male Allele pattern. The hESC line had pluripotent cell morphology, 92% of cells expressed Nanog, 97% Oct4, 79% Tra1-60 and 99% SSEA4, gave a Pluritest Pluripotency score of 25. Read More

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Derivation of FSHD1 affected human embryonic stem cell line Genea049.

Stem Cell Res 2016 Mar 11;16(2):469-71. Epub 2016 Feb 11.

Genea Biocells, Sydney, Australia.

The Genea049 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying a deletion in 4q35 with only 5 D4Z4 repeats by PGD linkage analysis, indicative of FSHD1. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 90% of cells expressed Nanog, 96% Oct4, 80% Tra1-60 and 99% SSEA4, gave a Pluritest Pluripotency score of 23. Read More

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Copy number variations in urine cell free DNA as biomarkers in advanced prostate cancer.

Oncotarget 2016 Jun;7(24):35818-35831

Division of Medical Oncology, Department of Oncology, Mayo Clinic, Rochester, MN, USA.

Genetic profiling of urine cell free DNA (cfDNA) has not been evaluated in advanced prostate cancer. We performed whole genome sequencing of urine cfDNAs to identify tumor-associated copy number variations in urine before and after initiating androgen deprivation therapy in HSPC stage and docetaxel chemotherapy in CRPC stage. A log2 ratio-based copy number analysis detected common genomic abnormalities in prostate cancer including AR amplification in 5/10 CRPC patients. Read More

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Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.

Nephrol Dial Transplant 2016 10 29;31(10):1693-8. Epub 2016 Feb 29.

Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, Guangdong, China.

Background: Women with fetal multicystic dysplastic kidneys (MCDK) are commonly referred for genetic counseling, for which identification of the correct etiology is a prerequisite.

Methods: A total of 72 women with fetal MCDK at Guangzhou Women and Children's Medical Center were examined via invasive prenatal diagnosis from May 2010 to June 2015. Standard karyotyping analysis was provided to all fetuses, and chromosomal microarray with Affymetrix CytoSan HD arrays was offered to cases whose DNA samples were available. Read More

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October 2016

Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.

Cytogenet Genome Res 2015 9;147(1):24-30. Epub 2015 Dec 9.

Regional Reference Centre for Inherited Bleeding Disorders, University Hospital of Parma, Parma, Italy.

Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. Read More

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SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy.

Genome Res 2015 Dec 10;25(12):1781-90. Epub 2015 Sep 10.

Department of Cell Biology, UT Southwestern Medical Center, Dallas, Texas 75390, USA; Center for Excellence in Genomics Medicine Research, King Abdulaziz University, Jeddah 21589, Saudi Arabia.

DNA is organized into complex three-dimensional chromatin structures, but how this spatial organization regulates gene expression remains a central question. These DNA/chromatin looping structures can range in size from 10-20 kb (enhancers/repressors) to many megabases during intra- and inter-chromosomal interactions. Recently, the influence of telomere length on chromatin organization prior to senescence has revealed the existence of long-distance chromatin loops that dictate the expression of genes located up to 10 Mb from the telomeres (Telomere Position Effect-Over Long Distances [TPE-OLD]). Read More

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December 2015

Copy number variants associated with epilepsy from gene expression microarrays.

J Clin Neurosci 2015 Dec 11;22(12):1907-10. Epub 2015 Aug 11.

Department of Neurology, Xi'an Children's Hospital, 69 Xijuyuanxiang, Xi'an 710003, Shaanxi, China.

We aimed to identify novel copy number variations (CNV) that might contribute to the pathogenesis of epilepsy. Epilepsy is a common brain disorder characterized by recurring seizures and various serious comorbidities, including respiratory, cardiovascular, and neurologic dysfunction. CNV have recently been considered as important risk factors for epilepsy. Read More

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December 2015

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

Am J Med Genet A 2015 Jul 6;167(7):1551-9. Epub 2015 Apr 6.

Medical Genetics Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

The 2q3 duplication and 4q3 deletion are two distinct conditions with variable phenotypes including developmental delay, intellectual disability, Pierre Robin sequence (PRS), and cardiovascular, craniofacial, digital and skeletal anomalies. We describe two cousins, a 37-year-old man (Patient 1) and a 17-year-old girl (Patient 2), with a derivative chromosome leading to a 4q35 deletion-2q35q37 duplication. Conventional karyotype showed in both patients the same rearrangement derived from unbalanced segregation of a parental reciprocal translocation involving the long arms of chromosome 2 and 4. Read More

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A familial interstitial 4q35 deletion with no discernible clinical effects.

Am J Med Genet A 2015 Aug 5;167A(8):1836-41. Epub 2015 Apr 5.

Department of Medical Biology, Faculty of Medicine, Sanko University, Gaziantep, Turkey.

Small deletions on the long arm of distal chromosome 4 do not appear to result in gross congenital malformations, with the most frequently reported clinical findings including mild to moderate intellectual disability, learning disabilities and minor dysmorphic features. Here we report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion with no discernible phenotypic effects in a mother and her two daughters. The karyotypes of the mother and her two daughters were: 46,XX,del(4)(q35. Read More

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Direct interplay between two candidate genes in FSHD muscular dystrophy.

Hum Mol Genet 2015 Mar 17;24(5):1256-66. Epub 2014 Oct 17.

Division of Regenerative Medicine, Stem Cells, and Gene Therapy, Dulbecco Telethon Institute at San Raffaele Scientific Institute, DIBIT2, 5A3, Via Olgettina 58, 20132 Milan, Italy

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders. The major form of the disease (FSHD1) is linked to decrease in copy number of a 3.3-kb tandem repeated macrosatellite (D4Z4), located on chromosome 4q35. Read More

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Facioscapulohumeral muscular dystrophy.

Neurol Clin 2014 Aug 15;32(3):721-8, ix. Epub 2014 May 15.

Department of Neurology, University of Rochester Medical Center, 265 Crittenden Boulevard, CU 420669, Rochester, NY 14642-0669, USA.

Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation. Clinically, both FSHD types often show asymmetric and progressive muscle weakness affecting initially the face, shoulder, and arms followed by the distal then proximal lower extremities. Approximately 95% of patients, termed FSHD1, have a deletion of a key number of repetitive elements on chromosome 4q35. Read More

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Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

BMC Med Genet 2014 Jun 25;15:72. Epub 2014 Jun 25.

Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany.

Background: Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals.

Case Presentation: Herein, we describe a boy with congenital hearing impairment and a variety of moderate syndromic features that prompted SNP array analysis disclosing a heterozygous 6. Read More

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Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.

J Child Neurol 2015 Apr 9;30(5):580-7. Epub 2014 Apr 9.

Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.

Facioscapulohumeral muscular dystrophy cases with facial weakness before the age of 5 and signs of shoulder weakness by the age of 10 are defined as early onset. Contraction of the D4Z4 repeat on chromosome 4q35 is causally related to facioscapulohumeral muscular dystrophy type 1, and the residual size of the D4Z4 repeat shows a roughly inverse correlation with the severity of the disease. Contraction of the D4Z4 repeat on chromosome 4q35 is believed to induce a local change in chromatin structure and consequent transcriptional deregulation of 4qter genes. Read More

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Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

Case Rep Obstet Gynecol 2013 19;2013:248050. Epub 2013 Dec 19.

Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, 21280 Diyarbakir, Turkey.

Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Read More

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January 2014

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

Mol Cytogenet 2013 Oct 31;6(1):47. Epub 2013 Oct 31.

Eurogenetica, Laboratory of Genetics, Athens-Thessaloniki, Greece.

Background: The 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible contribution of additional genetic rearrangements, such as unbalanced translocations, lead to a wide spectrum of clinical manifestations. The majority of reports of 4q- cases are associated with large deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with 4q- phenotype. Read More

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October 2013