Clarification of chromosomal abnormalities associated with sexual ambiguity by studies with Y-chromosomal DNA sequences.
Cases of gonadal dysgenesis, both Turner syndrome and mixed, were studied with Y centromeric and short-arm probes. The Y-centromeric alphoid repeat clone, Y97, allowed sensitive detection of Y-chromosomal material in marker chromosomes or mosaics by in situ analysis or Southern hybridization with purified DNA. The Y short-arm probe, p75/79, allowed detection of sequences normally associated with proximal Yp by Southern analysis. The presence of DNA fragments characteristic of Yp correlates well with partial male sexual differentiation in the cases of mixed gonadal dysgenesis. Thus, the combined use of molecular and cytogenetic techniques has proven to be a powerful approach to the analysis of chromosomal sex disorders.
Stalvey
J R
JR
Department of Pediatrics and Communicable Diseases, University of Michigan School of Medicine, Ann Arbor 48109-0618.
Erickson
R P
RP
Dasouki
M
M
Glover
T
T
Shokir
M
M
D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D005260:Female; D005819:Genetic Markers; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D012091:Repetitive Sequences, Nucleic Acid; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
D005819:Genetic Markers; D004247:DNA; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI