Journal ArticleDOI
Genomic heterogeneity and instability of the AZF locus on the human Y chromosome.
TLDR
A genetic redundancy of the multi-copy genes in AZFb and AZFc and a causative relationship between the occurrence of first microdeletions then macro deletions in the repetitive structure of Yq11 is suggested where large palindromes are probably promoting multiple gene conversions andAZF rearrangements.About:
This article is published in Molecular and Cellular Endocrinology.The article was published on 2004-09-30. It has received 88 citations till now. The article focuses on the topics: Azoospermia factor.read more
Citations
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Journal ArticleDOI
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
TL;DR: The American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation: evaluation of constitutional copy number variants detected in the postnatal setting.
Journal ArticleDOI
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs,Erica F. Andersen,Erica F. Andersen,Athena M. Cherry,Sibel Kantarci,Hutton M. Kearney,Ankita Patel,Gordana Raca,Deborah I. Ritter,Sarah T. South,Erik C. Thorland,Daniel E. Pineda-Alvarez,Swaroop Aradhya,Christa Lese Martin +13 more
TL;DR: A quantitative, evidence-based scoring framework is introduced; the implementation of the five-tier classification system widely used in sequence variant classification is encouraged; and “uncoupling” the evidence- based classification of a variant from its potential implications for a particular individual is recommended.
Journal ArticleDOI
Male infertility: role of genetic background
Alberto Ferlin,Florina Raicu,Valentina Gatta,Daniela Zuccarello,Giandomenico Palka,Carlo Foresta +5 more
TL;DR: The genetic causes of male infertility known to date, the genetic polymorphisms possibly associated with male infertility, and novel results of global gene expression profiling of normal human testis by microarray technology are reported.
Journal ArticleDOI
Functional coherence of the human y chromosome
Bruce T. Lahn,David C. Page +1 more
TL;DR: A systematic search of the nonrecombining region of the human Y chromosome (NRY) identified 12 novel genes or families, 10 with full-length complementary DNA sequences, which may account for infertility among men with Y deletions.
Journal Article
Genetics of human male infertility
TL;DR: The current estimate is that about 30 percent of men seeking help at the infertility clinic are found to have oligozoospermia or azoospermia of unknown aetiology, and there is a need to find the cause of infertility.
References
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Journal ArticleDOI
Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility
TL;DR: Three unrelated men in whom azoospermia or severe oligozoospermia was caused by de-novo AZFc deletions, and who produced sons by intracytoplasmic sperm injection (ICSI) are reported, are likely to be infertile as adults.
Journal Article
The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.
H J Chang,R D Clark,H Bachman +2 more
TL;DR: It is concluded that 95% of 45,X/46,XY fetuses will have normal male genitalia, although there will also be a significant risk for abnormal gonadal histology, and long-term follow-up studies are needed to study, without ascertainment bias, stature, pubertal development, tumor risk, and fertility.
Journal ArticleDOI
The Y chromosome and male fertility and infertility
TL;DR: Since 1995, thanks to a large number of studies, Y chromosome microdeletion screening has become part of the routine diagnostic work-up of severe male factor infertility.
Journal ArticleDOI
Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism
Patricia Blanco,Maria Shlumukova,Carole A. Sargent,Mark A. Jobling,Nabeel A. Affara,Matthew E. Hurles +5 more
TL;DR: It is shown that recurrent double crossovers have occurred between the HERVs, resulting in the loss of a 1.5 kb insertion from one HERV, an event underlying the first ever Y chromosomal polymorphism described, the 12f2 deletion.
Journal ArticleDOI
High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.
S. Fernandes,K. Huellen,João Gonçalves,H. Dukal,J. Zeisler,E. Rajpert De Meyts,Niels E. Skakkebæk,Barbara Habermann,Walter Krause,Mário Sousa,Alberto Barros,Peter H. Vogt +11 more
TL;DR: It is concluded that the deletion of the DAZ1/DAZ2 gene doublet in five out of the authors' 63 oligozoospermic patients (8%) is responsible for the patients' reduced sperm numbers, most likely caused by intrachromosomal recombination events between two long repetitive sequence blocks (AZFc-Rep1) flanking theDAZ gene structures.
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