Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females
- Institut Pasteur, Paris (France)
Human Y(+) XX maleness has been shown to result from an abnormal terminal Xp-Yp interchange that can occur during paternal meiosis. To test whether human XY females are produced by the same mechanism, the authors followed the inheritance of paternal pseudoautosomal loci and Xp22.3-specific loci in two XY female patients. Y-specific sequences and the whole pseudoautosomal region of the Y chromosome of their fathers were absent in these patients. However, the entire pseudoautosomal region and the X-specific part of Xp22.3 distal to the STS locus had been inherited from the X chromosome of the respective father. This Xp transfer to Yp was established by in situ hybridization experiments showing an Xp22.3-specific locus on Yp in both cases. Such results demonstrate that an abnormal and terminal X-Y interchange generated the rearranged Y chromosome of these two XY females; they appear to be the true counter type of Y(+) XX males. In these patients, who also display some Turner stigmata, the Y gene(s) involved in this phenotype is (are) localized to interval 1 or 2. If the loss of such gene(s) affects fetal viability, their proximity to TDF would account for the under representation of interchange 46,XY females compared with Y(+) XX males.
- OSTI ID:
- 5352694
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:7; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
CHROMOSOMAL ABERRATIONS
DIAGNOSIS
X CHROMOSOME
AUTORADIOGRAPHY
Y CHROMOSOME
DNA HYBRIDIZATION
KARYOTYPE
MEIOSIS
NUCLEOTIDES
PATIENTS
TRITIUM COMPOUNDS
CELL DIVISION
CHROMOSOMES
HETEROCHROMOSOMES
HYBRIDIZATION
HYDROGEN COMPOUNDS
MUTATIONS
ORGANIC COMPOUNDS
550400* - Genetics