A rare karyotype of nonmosaic isodicentric (Y) (p11.31) with azoospermia and short stature.

Abstract:

:Chromosome aberration is one of the common causes of male infertility. Isodicentric chromosome is a chromosomal aberration in which two arms of a chromosome are identical in morphology and genetics and connected by two centromeres. We firstly reported a case of infertile male with nonmosaic 46, X, idic (Y) (qter-p11.31::p11.31-qter) but with the sex-determining region Y (SRY). The broken site is the chromosome Y (p11.31). The patients' clinical phenotype was azoospermia and short stature. Fluorescence in situ hybridisation (FISH), chromosomal microarray comparative genomic hybridisation (array CGH) and related molecular analysis were performed. Azoospermia of this case may be caused by the abnormal chromosome structure, which leads to abnormal chromosome synapsis in spermatogenesis. Loss of genes in PAR1 and gain of genes copies in azoospermia factor (AZF) region on the Y chromosome may also contribute to the pathogenesis of azoospermia.

journal_name

Andrologia

journal_title

Andrologia

authors

Dai Y,Li H,Zhang X,Jia M,Gu X

doi

10.1111/and.13536

subject

Has Abstract

pub_date

2020-05-01 00:00:00

pages

e13536

issue

4

eissn

0303-4569

issn

1439-0272

journal_volume

52

pub_type

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