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Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)

Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)
Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)
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.
report, dna-binding proteins, phenotype, family, pedigree, aged, genes, protein, genetic, hypogonadism, developmental disabilities, chromosome breakage, adolescent, nuclear proteins, prader-willi syndrome, syndrome, female, human, cell cycle, receptors, male, singapore, transcription factorsy, middle aged, proteins, research support, translocation, sex-determining region y protein, 80 and over, pair 15, gaba-b, chromosomes, child, diagnosis, karyotyping, genetics, cell cycle proteins, humans, non-us government
0148-7299
177-180
Gole, Leena
d984f19d-9eaf-4376-8c09-0f465458b8bf
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Thomas, Simon N.
6aac3e46-688d-4ad8-81ed-b7a667f4f20d
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Dennis, Nicholas R.
154aa617-52e2-4711-98ef-89fef8610de7
Gole, Leena
d984f19d-9eaf-4376-8c09-0f465458b8bf
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Thomas, Simon N.
6aac3e46-688d-4ad8-81ed-b7a667f4f20d
Jacobs, Patricia A.
d87ec15b-13c3-4868-96f1-b4b99030fa5b
Dennis, Nicholas R.
154aa617-52e2-4711-98ef-89fef8610de7

Gole, Leena, Crolla, John A., Thomas, Simon N., Jacobs, Patricia A. and Dennis, Nicholas R. (2004) Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12). American Journal of Medical Genetics part A, 125 (2), 177-180. (doi:10.1002/ajmg.a.20482).

Record type: Article

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.

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More information

Published date: 1 March 2004
Keywords: report, dna-binding proteins, phenotype, family, pedigree, aged, genes, protein, genetic, hypogonadism, developmental disabilities, chromosome breakage, adolescent, nuclear proteins, prader-willi syndrome, syndrome, female, human, cell cycle, receptors, male, singapore, transcription factorsy, middle aged, proteins, research support, translocation, sex-determining region y protein, 80 and over, pair 15, gaba-b, chromosomes, child, diagnosis, karyotyping, genetics, cell cycle proteins, humans, non-us government
Organisations: Human Genetics

Identifiers

Local EPrints ID: 59766
URI: http://eprints.soton.ac.uk/id/eprint/59766
ISSN: 0148-7299
PURE UUID: 3dfa7c83-ad2d-4cbc-b587-5567f9d8a3a0

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Date deposited: 03 Sep 2008
Last modified: 15 Mar 2024 11:17

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Contributors

Author: Leena Gole
Author: John A. Crolla
Author: Simon N. Thomas
Author: Patricia A. Jacobs
Author: Nicholas R. Dennis

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