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.

A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling

“…Several types of cell lines are found in reported patients with idic(Y), most commonly including 45,X cell line (95% of cases) [ 3 ]. Cases with mosaic 45,X/46,X,idic(Y) usually have very wide and variable phenotypes [ 6 , 7 ]. Among these symptoms, ambiguous genitalia and short stature were most common.…”