نتایج جستجو برای: chromosome microdeletions introduction
تعداد نتایج: 492961 فیلتر نتایج به سال:
background: the aim of this study was to determine the incidence of azf (azoospermia factor) microdeletions of the y chromosome in infertile turkish male patients and intracytoplasmic sperm injection (icsi) outcome of these patients. objective: this study was undertaken in order to evaluate the outcome of intracytoplasmic sperm injection (icsi) in infertil man with azf microdeletions materials ...
Abstract Introduction Microdeletions of the Y-chromosome (Yq) and karyotype abnormalities are frequent causes male factor infertility. Current AUA/EUA guidelines recommend obtaining Yq microdeletion analysis, karyotype, genetic counseling in men with non-obstructive azoospermia or severe oligospermia (<5 mil/mL). A recent retrospective cohort study suggests that microdeletions primarily ...
BACKGROUND The androgen receptor (AR) gene contains a polymorphic trinucleotide repeat that encodes a polyglutamine tract in its N-terminal transactivation domain (N- TAD). We aimed to find a correlation between the length of this polymorphic tract and azoospermia or oligozoospermia in infertile men living in Khuzestan, Iran. MATERIALS AND METHODS In this case-control study during two years t...
Microdeletions in Yq are associated with defects in spermatogenesis, while those in the AZF region are considered critical for germ cell development. We examined microdeletions in the Y chromosomes of patients attended at the Laboratory of Human Reproduction of the Clinical Hospital of the Federal University of Goiás as part of a screening of patients who plan to undergo assisted reproduction. ...
Testicular germ cell cancer is aetiologically linked to genital malformations and male infertility and is most probably caused by a disruption of embryonic programming and gonadal development during fetal life. In some cases, germ cell neoplasia is associated with a relative reduction of Y chromosomal material (e.g. 45,X/46,XY) or other abnormalities of the Y chromosome. The euchromatic long ar...
At chromosome 11p15.5, the imprinting centre 1 (IC1) controls the parent of origin-specific expression of the IGF2 and H19 genes. The 5 kb IC1 region contains multiple target sites (CTS) for the zinc-finger protein CTCF, whose binding on the maternal chromosome prevents the activation of IGF2 and allows that of H19 by common enhancers. CTCF binding helps maintaining the maternal IC1 methylation...
Chromosome 22ql1 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22qll microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22qll FISH studies should therefore be perfo...
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