نتایج جستجو برای: chromosome microdeletion
تعداد نتایج: 120218 فیلتر نتایج به سال:
AIM To develop a high-throughput multiplex, fast and simple assay to scan azoospermia factor (AZF) region microdeletions on the Y chromosome and establish the prevalence of Y chromosomal microdeletions in Chinese infertile males with azoospermia or oligozoospermia. METHODS In total, 178 infertile patients with azoospermia (non-obstructed), 134 infertile patients with oligozoospermia as well a...
INTRODUCTION Angelman syndrome, a neurodevelopmental genetic disorder associated with abnormalities in chromosome15q11-q13, is inherited from the mother. Epilepsy is seen in 85 % of children with Angelman syndrome within the first 3 years of life and is often severe and difficult to control. CASE PRESENTATION We report a case of a baby boy who presented at 13 months of age with a history of a...
BACKGROUND About 15% of couples have infertility problems which 40% of them are related to the male factors. Genetic factors are candidate for about 10% of male infertility conditions. Among these, AZFa, AZFb, AZFc and AZFd regions on the Yq are considered most important for spermatogenesis. Microdeletions of these regions are thought to be involved in some cases of azoospermic or oligospermic ...
The proximal q arm of chromosome 15 contains breakpoint regions BP1-BP5 with the classic deletion of BP1-BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features includ...
The Y chromosome provides a unique opportunity to study mutational processes within the human genome, decoupled from the confounding effects of interchromosomal recombination. It has been suggested that the increased density of certain dispersed repeats on the Y could account for the high frequency of causative microdeletions relative to single nucleotide mutations in infertile males. Previousl...
Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone (PTH) resistance, but lack physical features of Albright hereditary osteodystrophy. PHP-Ib is thus distinct from PHP-Ia, which is caused by mutations in the GNAS exons encoding the G protein alpha subunit. However, an imprinted autosomal dominant form of PHP-Ib (AD-PH...
BACKGROUND Y chromosomal microdeletion is an important genetic disorder, which may arise due to intrachromosomal recombination between homologous sequences in the male specific region of the human Y chromosome. It is frequently associated with the quantitative reduction of sperm. The screening for Y chromosomal microdeletions has a great clinical value. OBJECTIVE To develop a sequence tagged ...
BACKGROUND The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS We estimate the prevalence of the syndrome to be 1 in 1...
22q11.2 microdeletion which involves DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome occurs as a result of a deletion in the short segment of the long arm of the 22th chromosome. Patients with this syndrome have a wide clinical spectrum including learning difficulty, dysmorphic face, cardiac anomalies, hypocalcemia, hypoparathyroidism, cleft palate, thymus an...
AIMS The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc). Microdeletions in this region are responsible for azoospermia and oligospermia and result in the male infertility. The aim of this study was to ana...
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