title: Use of Y-chromosome-specific DNA probes to evaluate an XX male.
abstract: 1. The function of a Y human chromosomal DNA sequence was evaluated. The Y-5 probe was isolated from a flow-sorted chromosome library and detects Y-specific sequences. 2. The Y-5 probe and other Y-specific probes were used to analyze an XX male patient without ambiguous genitalia. 3. DNA sequences from the short arm of the chromosome Y that were detected with pDP1007 and pDP105 in the patient's genome explain the testis differentiation observed in this case. 4. Failure of the patient's DNA to hybridize to the Y-5 probe shows that the primitive gonads can differentiate into testes even in the absence of this chromosome region. In contrast, a gene controlling spermatogenesis may exist in this region because the patient is azoospermic.
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
authors.forename: S B
authors.initials: SB
authors.lastname: Farah
authors.forename: H M
authors.initials: HM
authors.lastname: Garmes
authors.forename: D P
authors.initials: DP
authors.lastname: Cavalcanti
authors.forename: M P
authors.initials: MP
authors.lastname: Mello
authors.forename: R N
authors.initials: RN
authors.lastname: Porrelli
authors.forename: C F
authors.initials: CF
authors.lastname: Ramos
authors.forename: E L
authors.initials: EL
authors.lastname: Sartorato
mesh_terms: D000293:Adolescent; D015139:Blotting, Southern; D015342:DNA Probes; D006801:Humans; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations; D012733:Sex Differentiation; D014998:Y Chromosome / Q000502:physiology*
chemical_list: D015342:DNA Probes