Y‐specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes
- 1 October 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 28 (2) , 393-401
- https://doi.org/10.1002/ajmg.1320280218
Abstract
Y chromosomal DNA sequences were detected in three of four 46,XX males and in one 47.XXX male. One reiterated Y chromosomal sequence, Y‐190, was localized by in situ hybridization to the distal short arm of an X chromosome of the 47,XXX male. This result is compatible with the hypothesis that an aberrant X/Y interchange has occurred, most likely during paternal meiosis, and that this interchange accounts for Y chromosomal material and sex reversal in this 47,XXX individual.Keywords
This publication has 19 references indexed in Scilit:
- Chromosome Y-Specific DNA Is Transferred to the Short Arm of X Chromosome in Human XX MalesScience, 1986
- Variable transfer of Y-specific sequences in XX malesNucleic Acids Research, 1986
- Homologies between X and Y charomosomes detected by DNA probes: localisation and evolutionNucleic Acids Research, 1985
- Genetic evidence of X–Y interchange in a human XX maleNature, 1984
- Human XX males with Y single-copy DNA fragmentsNature, 1984
- The etiology of maleness in XX menHuman Genetics, 1981
- Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridizationChromosoma, 1981
- 47,XXX chromosome constitution in a male.Journal of Medical Genetics, 1980
- POSSIBLE EVIDENCE FOR Xp+ IN AN XX MALEThe Lancet, 1974
- X-Y CHROMOSOMAL INTERCHANGE IN THE ÆTIOLOGY OF TRUE HERMAPHRODITISM AND OF XX KLINEFELTER'S SYNDROMEThe Lancet, 1966