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Characterization of breakpoints in theGABRG3 andTSPY genes in a family with a t(Y;15)(p11.2;q12)

✍ Scribed by Gole, Leena ;Crolla, John A. ;Thomas, Simon N. ;Jacobs, Patricia A. ;Dennis, Nicholas R.

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
64 KB
Volume
125A
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

We report the clinical, cytogenetic, and molecular findings in a family in which a t(Y;15)(p11.2;q12) is segregating. The Y chromosome breakpoint disrupts the DYZ5 sequence containing the TSPY genes that are exclusively expressed in the testes while the chromosome 15 breakpoint is within the GABRG3 gene. The father and his son who both carried the balanced form of the translocation are clinically normal. A daughter who carried the der Y had the clinical features of Prader–Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism. The relationship of the translocation to the clinical phenotypes is discussed. Β© 2003 Wiley‐Liss, Inc.

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