نتایج جستجو برای: y chromosome deletions

تعداد نتایج: 618566  

Journal: :Journal of medical genetics 2005
C Giachini E Guarducci G Longepied S Degl'Innocenti L Becherini G Forti M J Mitchell C Krausz

Y chromosome microdeletions are the most frequent genetic cause of severe oligozoospermia (,5 million spermatozoa/ml) and azoospermia (absence of spermatozoa in the ejaculate). Microdeletions associated with infertility occur in specific regions of the long arm of the Y chromosome, called azoospermia factor (AZF) regions. 3 In 1996, three types of AZF deletion (AZFa, AZFb, and AZFc) were descri...

Journal: :Journal of medical genetics 2002
S Kirsch B Weiss S Kleiman K Roberts J Pryor A Milunsky A Ferlin C Foresta G Matthijs G A Rappold

The sex related height difference in humans is thought to be caused mainly by two components: first, a hormonal component determined by the sex dimorphism of bioactive gonadal steroids, and, second, a genetic component attributed to a Y specific growth gene, GCY. Despite extensive mapping attempts for this gene on the human Y chromosome, its precise position remains unknown. We have recently pr...

2002
S Kirsch B Weiss S Kleiman K Roberts J Pryor A Milunsky A Ferlin C Foresta G Matthijs G A Rappold

The sex related height difference in humans is thought to be caused mainly by two components: first, a hormonal component determined by the sex dimorphism of bioactive gonadal steroids, and, second, a genetic component attributed to a Y specific growth gene, GCY. Despite extensive mapping attempts for this gene on the human Y chromosome, its precise position remains unknown. We have recently pr...

2015
M. Burak Kaplan Hasan Acar

BACKGROUND Infertility is a health problem which affects about 10-20% of married couples. Male factor infertility is involved approximately 50% of infertile couples. Most of male infertility is regarding to deletions in the male-specific region of the Y chromosome. OBJECTIVE In this study, the occurrence of deletions in the AZF region and association between infertility and paternal age were ...

2013
Saeede Soleimanian Seyyed Mahdi Kalantar Mohamad Hasan Sheikhha Mohamad Ali Zaimy Azam Rasti Hossein Fazli

BACKGROUND In human, about 25% of implanted embryos are losing 1-2 week following attachment to the uterus. A subset of this population will have three or more consecutive miscarriages which define as repeated pregnancy loss (RPL). Introducing the assisted reproductive technologies (ARTS) made a chance for infertile couples to solve their childless problem. OBJECTIVE This study was conducted ...

2009
Mark A. Jobling

The Y chromosome is unusual in being constitutively haploid and escaping recombination for most of its length. This has led to a correspondingly unusual genomic landscape, rich in segmental duplications, which provide a rich environment for the generation of copy number variation (CNV). Interest in the chromosome comes from diverse fields, including infertility research, population genetics, fo...

Journal: :Genetics 1992
B D McKee L Habera J A Vrana

In Drosophila melanogaster males, X-Y meiotic chromosome pairing is mediated by the nucleolus organizers (NOs) which are located in the X heterochromatin (Xh) and near the Y centromere. Deficiencies for Xh disrupt X-Y meiotic pairing and cause high frequencies of X-Y nondisjunction. Insertion of cloned rRNA genes on an Xh- chromosome partially restores normal X-Y pairing and disjunction. To map...

2008
Julian Lange Helen Skaletsky George W. Bell David C. Page

Y chromosome deletions arise frequently in human populations, where they cause sex reversal and Turner syndrome and predispose individuals to infertility and germ cell cancer. Knowledge of the nucleotide sequence of the male-specific region of the Y chromosome (MSY) makes it possible to precisely demarcate such deletions and the repertoires of genes lost, offering insights into mechanisms of de...

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