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

10.1002/ajmg.a.20482

0148-7299

177-180

Gole, Leena

d984f19d-9eaf-4376-8c09-0f465458b8bf

Crolla, John A.

c5f23751-8de9-4a55-9cc5-ca2fb635769c

Thomas, Simon N.

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Jacobs, Patricia A.

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Dennis, Nicholas R.

154aa617-52e2-4711-98ef-89fef8610de7

1 March 2004

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).

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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