A novel Y chromosome microdeletion potentially associated with defective spermatogenesis identified by custom array comparative genome hybridization
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چکیده
منابع مشابه
Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization.
OBJECTIVE Prader-Willi Sydrome (PWS) is a human disorder related to genomic imprinting defect on 15q11-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis, hypogonadism, mental and behaviour disorders. Our study was designed to precisely detect the microdeletions, which accounts for 65%-70% of the PW...
متن کامل2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
BACKGROUND Genome-wide screening of patients with mental retardation using array comparative genomic hybridisation (CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. The authors report two unrelated patients with a de novo interstitial deletion mapping in this genomic region and pre...
متن کاملNovel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.
Mantle cell lymphoma (MCL) is an aggressive, highly proliferative B-cell non-Hodgkin lymphoma, characterized by the specific t(11;14)(q13;q32) translocation. It is well established that this translocation alone is not sufficient to promote MCL development, but that additional genetic changes are essential for malignant transformation. We have identified such additional tumorigenic triggers in M...
متن کاملMicrodeletion and Microduplication Analysis of Chinese Conotruncal Defects Patients with Targeted Array Comparative Genomic Hybridization
OBJECTIVE The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH) to detect microdeletions and microduplications in congenital conotruncal defects (CTDs), especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3. METHODS Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA), 10 do...
متن کاملChromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure.
Using comparative genomic hybridization, we have detected chromosome abnormality in 76/126 (60%) single blastomeres biopsied prior to implantation from embryos from 20 women with repeated implantation failure following IVF. The abnormalities detected included aneuploidy for one or two chromosomes [32/126 (25%)] and complex chromosomal abnormality [37/126 (29%)]. Most of the chromosomes involved...
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ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2017
ISSN: 1472-6483
DOI: 10.1016/j.rbmo.2016.09.010