Literature DB >> 9294856

Dicentric Y chromosome in an azoospermic male.

A Yoshida1, Y Nakahori, Y Kuroki, M Motoyama, Y Araki, K Miura, M Shirai.   

Abstract

We describe a 28 year old male with a pseudodicentric Y chromosome who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte, as diagnosed by testicular biopsy. Chromosome analysis, using G, Q and C banding techniques, revealed an abnormal karyotype of 45,X[7]/46,X,psu dic (Y)(pter-->q11.2::q11.2-->pter)[33]. Polymerase chain reaction (PCR) DNA analysis did not detect the absence of DAZ and RBM1 which are candidates for azoospermic factor (AZF) genes. Therefore, it is suggested that the maturation arrest of the primary spermatocyte in this patient was caused either by a pairing dysfunction between the X and Y chromosomes during meiosis or by deletions in the autosomal or the Y chromosomal spermatogenesis controlling genes, excluding DAZ and RBM1.

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Year:  1997        PMID: 9294856     DOI: 10.1093/molehr/3.8.709

Source DB:  PubMed          Journal:  Mol Hum Reprod        ISSN: 1360-9947            Impact factor:   4.025


  5 in total

1.  A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus.

Authors:  Long-Ching Kuan; Mei-Tsz Su; Ming Chen; Pao-Lin Kuo; Tsung-Cheng Kuo
Journal:  J Assist Reprod Genet       Date:  2013-10-25       Impact factor: 3.412

2.  45,X mosaicism in northeast China: a clinical report and review of the literature.

Authors:  Xiang-Yin Liu; Hong-Guo Zhang; Shuang Chen; Rui-Xue Wang; Zhi-Hong Zhang; Rui-Zhi Liu
Journal:  J Assist Reprod Genet       Date:  2013-01-09       Impact factor: 3.412

3.  RHOXF2 gene, a new candidate gene for spermatogenesis failure.

Authors:  Christophe Frainais; Caroline Kannengiesser; Martine Albert; Denise Molina-Gomes; Florence Boitrelle; Marc Bailly; Bernard Grandchamp; Jacqueline Selva; François Vialard
Journal:  Basic Clin Androl       Date:  2014-02-10

4.  Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report.

Authors:  Yan-Mei Si; Yuan Dong; Wei Wang; Ke-Yan Qi; Xin Wang
Journal:  Mol Med Rep       Date:  2017-05-10       Impact factor: 2.952

Review 5.  An overview of mutation detection methods in genetic disorders.

Authors:  Nejat Mahdieh; Bahareh Rabbani
Journal:  Iran J Pediatr       Date:  2013-08       Impact factor: 0.364

  5 in total

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