نتایج جستجو برای: yq deletions

تعداد نتایج: 19460  

A NIEVA, B SUH, C MALLIDIS, DM De KRETSER, F SAHEBJAM, H NAJMABADI, HW GORDEN BAKER, KA LOVELAND, L RAMIREZ, M GUTIERREZ, RI McLACHLAN, S ARVER, S BHASIN, S SAHEBJAM, W TAYLOR,

It is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the Y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (AZF) in Yq 11.23. However, it is not known whether Yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (o...

Journal: :medical journal of islamic republic of iran 0
h najmabadi from the welfare science and rehabilitation university (hn), tehran, iran; karimi-nejad pathology & genetic center (hn, ss, fs), tehran, iran; division of endocrinology, metabolism, and molecularmedicine (kk. wt, lr, an, mg, sb) and department of obstetrics and gynecology (bs), charles r.drew university of medicine and science, los angeles, ca, usa; department of obstetrics andgynecology, university of melbourne, australia; institute of reproduction and development (dmdk,rim. kal), monash university, melbourne, australia, and prince henry:s medical research institute (rimc), and karolinska institute, stokholm, sweden (s a). dm de kretser s arver w taylor c mallidis hw gorden baker

it is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (azf) in yq 11.23. however, it is not known whether yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (oligo...

2018
Stacy Colaco Deepak Modi

The human Y chromosome harbors genes that are responsible for testis development and also for initiation and maintenance of spermatogenesis in adulthood. The long arm of the Y chromosome (Yq) contains many ampliconic and palindromic sequences making it predisposed to self-recombination during spermatogenesis and hence susceptible to intra-chromosomal deletions. Such deletions lead to copy numbe...

Journal: :Journal of medical genetics 1995
P Salo J Ignatius K O Simola E Tahvanainen H Kääriäinen

Deletions of the long arm of the Y chromosome have previously been associated with azoospermia and short stature. We report the results of a detailed clinical and molecular study of nine males with partial deletions of Yq. Special emphasis was laid on congenital anomalies and dysmorphic features. Some of the patients have developmental problems or distinct facial features, namely a small chin a...

Journal: :Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2003
S L SãoPedro R Fraietta D Spaine C S Porto M Srougi A P Cedenho M C W Avellar

We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men ...

Journal: :Human reproduction 2003
C V Hopps A Mielnik M Goldstein G D Palermo Z Rosenwaks P N Schlegel

BACKGROUND Y chromosome microdeletions are associated with severe male factor infertility. In this study, the success rate of testicular sperm retrieval was determined for men with deletions of AZF regions a, b or c. METHODS AZF deletions were detected by PCR of 30 sequence-tagged sites within Yq emphasizing the AZFa, b and c regions. Semen analysis and diagnostic testis biopsy or testicular ...

Journal: :Genetics 2004
Aminata Touré Maria Szot Shantha K Mahadevaiah Aine Rattigan Obah A Ojarikre Paul S Burgoyne

The mouse Y chromosome carries 10 distinct genes or gene families that have open reading frames suggestive of retained functionality; it has been assumed that many of these function in spermatogenesis. However, we have recently shown that only two Y genes, the testis determinant Sry and the translation initiation factor Eif2s3y, are essential for spermatogenesis to proceed to the round spermati...

Journal: :Human reproduction 1999
A Ferlin E Moro A Garolla C Foresta

Microdeletions in Yq11 overlapping three distinct 'azoospermia factors' (AZFa-c) represent the aetiological factor of 10-15% of idiopathic azoospermia and severe oligozoospermia, with higher prevalence in more severe testiculopathies, such as Sertoli cell-only syndrome. Using a PCR-based screening, we analysed Yq microdeletions in 180 infertile patients affected by idiopathic Sertoli cell-only ...

Journal: :Genomics 2013
Julian Lange Michiel J Noordam Saskia K M van Daalen Helen Skaletsky Brian A Clark Merryn V Macville David C Page Sjoerd Repping

Amplicons--large, nearly identical repeats in direct or inverted orientation--are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus far, NAHR events resulting in deletions, duplications, inversions, or isodicentric chromosomes have been reported only for amplicon pairs located exclusive...

Journal: :Clinical endocrinology 2003
Paolo A Tomasi Robert Oates Laura Brown Giuseppe Delitala David C Page

OBJECTIVE The most frequent known genetic causes of severe oligospermia (< 5 million sperm/ml) or azoospermia in men are Klinefelter's syndrome (KS), and deletions in the Y chromosome long arm (Yq). We aimed to compare the function of the pituitary-testicular axis in patients with severe oligospermia or azoospermia, idiopathic or associated with Y chromosome deletions or Klinefelter's syndrome ...

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