Clinical management of a rare de novo translocation 46,X,t(Y;15) (p11.2 approximately 11.3;q11.2).ish t(Y;15)(DYZ3+,AMELY+,SNRPN+;D15Z+) found prenatally.

摘要

A 40-year-old woman had amniocentesis at 16 weeks' gestation. Chromosome studies based on 15 colonies showed a de novo 46,X,t(Y;15)(p11.2 approximately 11.3;q11.2) karyotype. Using C- and Q-banding, the additional material on 15 appeared to be Yqh heterochromatin. The satellite on the small derivative chromosome was positive by AgNOR staining. Fluorescence in situ hybridization (FISH) studies using Y and 15 alpha satellite centromeric probes (DYZ3 and D15Z) showed that the derivative chromosome that resembled 15p+ had a Y centromere and that the satellited derivative had a 15 centromere. The break on Y was distal to the amelogenin locus and on 15 it was shown to be proximal to the Prader Willi/Angelman region by using the SNRPN probe. DNA studies ruled out uniparental disomy of chromosome 15 and a SRY deletion. The pregnancy was continued and a normal baby boy without any discernible abnormalities was born.