PMID: 9556048Apr 29, 1998Paper

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

Prenatal Diagnosis
K S Reddy

Abstract

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.

References

Jan 1, 1992·American Journal of Medical Genetics·M B QumsiyehA T Tharapel
May 1, 1988·Human Genetics·T AlitaloA de la Chapelle
Feb 15, 1994·American Journal of Medical Genetics·S B FarahC Hackel

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Citations

Mar 14, 2002·American Journal of Medical Genetics·Tomoko IdaNorio Niikawa
Mar 17, 2001·American Journal of Medical Genetics·E Rajcan-SeparovicJ Guscott
Feb 26, 2004·American Journal of Medical Genetics. Part a·C BorieP Eydoux
Jun 10, 2010·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Lin WangXiguang Zheng

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