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.
Department of Obstetrics and Gynaecology, National University of Singapore, Singapore.
Leena
L
Gole
John A
JA
Crolla
Simon N
SN
Thomas
Patricia A
PA
Jacobs
Nicholas R
NR
Dennis
D000293:Adolescent; D000368:Aged; D000369:Aged, 80 and over; D018797:Cell Cycle Proteins; D002648:Child; D019457:Chromosome Breakage; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C106350:GABRR2 protein, human; D009687:Nuclear Proteins; D011963:Receptors, GABA-A; D018080:Receptors, GABA-B; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D014157:Transcription Factors