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
Andrologiajournal_title
Andrologiaauthors
Dai Y,Li H,Zhang X,Jia M,Gu Xdoi
10.1111/and.13536subject
Has Abstractpub_date
2020-05-01 00:00:00pages
e13536issue
4eissn
0303-4569issn
1439-0272journal_volume
52pub_type
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