Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions
نویسندگان
چکیده
منابع مشابه
XX males without SRY gene and with infertility.
The case of a 28 year old male with normal male phenotype, in whom repeated seminal analysis showed complete azoospermia, is presented. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Polymerase chain reaction (PCR) analysis of genomic DNA failed to detect the presence of the sex-determining region of the Y chromosome (SRY). A literature review of a...
متن کاملAZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome.
Deletions of the AZFc region in Yq11.2, which include the DAZ gene family, are responsible for most cases of male infertility and were associated with severe oligozoospermia and also with a variable testicular pathology. To uncover the functional contribution of DAZ to human spermatogenesis, a DAZ gene copy-specific deletion analysis was previously established and showed that DAZ1/DAZ2 deletion...
متن کاملGenetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population.
BACKGROUND Genetic factors cause about 15% of male infertility. Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are most important for spermatogenesis. We have made an attempt to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermia and oligozoospermia from central Indian population. MATERIALS AND METHODS We have analyzed a total of 156 sub...
متن کاملMaturation arrest of human oocytes as a cause of infertility: case report.
Maturation arrest of human oocytes may occur at various stages of the cell cycle. A total failure of human oocytes to complete meiosis is rarely observed during assisted conception cycles. We describe here a case series of infertile couples for whom all oocytes repeatedly failed to mature during IVF/ICSI. Eight couples, all presenting with unexplained infertility, underwent controlled ovarian s...
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ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2012
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-012-9822-y