True vs. false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21

Sperm meiotic segregation and aneuploidy in a 46,X,inv(Y),t(10;15) carrier: case report

“…Such aberrations were not described in progeny of inv(Y) carriers, because X-Y recombination occurs only in pseudoautosomal regions located on the ends of both sex chromosomes (13). Although a coincidence of inv(Y) and aneuploidy of other chromosomes or a presence of aneuploidy in the offspring of inversion carriers, which would indicate a possible interchromosomal effect, has been reported in some cases (7,14,15), paternal origin of such numeric aberrations has not been proven.…”

Mosaic Down syndrome with a marker: Molecular cytogenetic characterization of the marker chromosome

“…Most of the reported cases involve X monosomy and trisomy 21 (Harada et al, 1998) but only a few reports exist with the mosaic DS and Y chromosome abnormality. For instance a DS with inv(Y) was reported by Rivera et al (2002).In this report we describe a boy with suspected DS. Cytogenetic analysis revealed a karyotype of 47 XY+21 [20]/46,X+marker [30].…”

Cytogenetic Profiles of 1213 Children with Down Syndrome in South Region of Turkey

“…Constitutional mosaicism consisting of sex chromosome aneuploidy and autosomal trisomy is a rare finding. Most of the reported cases involve X monosomy and trisomy 21 [9] but only a few reports exist with the mosaic DS and Y chromosome abnormality [10]. In this report we present the frequencies and distributions of the postnatal prevalence of CAs in children and newborns with DS physical features, and the relation between the karyotypes and phenotypes in a large group of cases in South Region of Turkey.…”