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Identification of the origin of ring/marker chromosomes in patients with ullrich‐turner syndrome using X and Y specific alpha satellite DNA probes

1992; Wiley; Volume: 42; Issue: 5 Linguagem: Inglês

10.1002/ajmg.1320420519

1096-8628

Sugandhi A. Tharapel, R. Sid Wilroy, Amber M. Keath, Marian L. Rivas, Avirachan T. Tharapel,

Genomic variations and chromosomal abnormalities

Abstract Fluorescent in situ hybridization (FISH) using X and Y chromosome‐specific α satellite DNA probes hybridizing to loci DXZ1 and DYZ3 was performed to identify the origin of ring/marker chromosomes in 6 patients with Ullrich‐Turner syndrome (UTS). All patients had a mosaic karyotype, 5 with 45, X/46,X,r(?) and one with 45,X/46,X,mar. We demonstrated that the marker/ring chromosome in each of these 6 patients originated from the X. A timely knowledge of the X or Y origin of ring and marker chromosomes can be crucial in genetic counseling and medical management since the presence of Y chromosome material in phenotypic females is known to increase the risk for developing gonadoblastoma.