Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion.
نویسندگان
چکیده
PWS or may have had five of the following characteristics? Floppiness at birth. Initial failure to thrive or diYculty in sucking. The development of severe overeating and rapid weight gain in early childhood. Obesity or the need for weight control. Problems with sexual development (for example, undescended testes, delayed periods). Some learning disability (mental handicap). Small hands and feet. Short stature or the need for growth hormone. An abnormality of chromosome 15.
منابع مشابه
بررسی حذف های کوچک کروموزوم Y در مردان نابارور مراجعه کننده به بیمارستان فاطمیه همدان با روش Multiplex PCR
Introduction & Objective: Male factor is the major cause of infertility in 20% of cases (WHO). There are known etiologies for 70% of cases .However, 30% of infertility cases are of idiopathic origin. The Y chromosome and micro deletion of the long arm of the Y chromosome (Yq) in three regions (AZFa, AZFb ,AZFc ) are associated with spermatogenic failure and is a major etiology for oligo and a...
متن کاملY chromosome haplogroups may confer susceptibility to partial AZFc deletions and deletion effect on spermatogenesis impairment.
BACKGROUND Partial AZFc deletions related to testis-specific gene families are common mutations of the Y chromosome, but their contribution to spermatogenic impairment is still unresolved, and the risk factors for the formation of the deletions remain unknown. With this in mind, we investigated the possible association between Y chromosome haplogroups and predisposition to partial AZFc deletion...
متن کاملI-6: Azoospermia Factor in Male Infertility
Background The human Y chromosome is essential for human sex determination and male germ cell development and maintenance. In 1996, Vogt et al. identified three recurrently deleted regions in Yq11 termed the azoospermia factor (AZF). The AZF region is subdivided into three non-overlapping sub-regions called AZFa, AZFb and AZFc and microdeletion in these regions is the most important etiology of...
متن کاملMolecular Study of Partial Deletions of AZFc Region of the Y Chromosome in Infertile Men
Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...
متن کاملUnusual maternal uniparental isodisomic x chromosome mosaicism with asymmetric y chromosomal rearrangement.
Infertile men with azoospermia commonly have associated microdeletions in the azoospermia factor (AZF) region of the Y chromosome, sex chromosome mosaicism, or sex chromosome rearrangements. In this study, we describe an unusual 46,XX and 45,X mosaicism with a rare Y chromosome rearrangement in a phenotypically normal male patient. The patient's karyotype was 46,XX[50]/45,X[25]/46,X,der(Y)(pter...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 38 11 شماره
صفحات -
تاریخ انتشار 2001