A study of females with deletions of the short arm of the X chromosome.

Autor: James, Rowena S., Coppin, Brian, Dalton, Paola, Dennis, Nicholas R., Mitchell, Caroline, Sharp, Andrew J., Skuse, David H., Thomas, N. Simon, Jacobs, P. A.
Zdroj: Human Genetics; May1998, Vol. 102 Issue 5, p507-516, 10p
Abstrakt: We have undertaken a clinical and molecular study of 25 females with deletions of the short arm of the X chromosome. We have determined the deletion breakpoints, the parental origin and the activation status of the deleted X chromosomes. Genotype–phenotype correlations suggest that the presence of a single copy of the DFFRX gene, previously postulated as a gene involved in the ovarian failure seen in Turner syndrome, may be compatible with normal ovarian function, and that there may be a gene for Turner-like features located in distal Xp22.3. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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