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

Rowena S. James; Brian Coppin; Paola Dalton; Nicholas R. Dennis; Caroline Mitchell; Andrew J. Sharp; David H. Skuse; N. Simon Thomas; Patricia A. Jacobs

doi:10.1007/s004390050733

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

Rowena S. James, Brian Coppin, Paola Dalton, Nicholas R. Dennis, Caroline Mitchell, Andrew J. Sharp, David H. Skuse, N. Simon Thomas, Patricia A. Jacobs

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Abstract

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.

Original language	English
Pages (from-to)	507-516
Number of pages	10
Journal	Human Genetics
Volume	102
Issue number	5
DOIs	https://doi.org/10.1007/s004390050733
Publication status	Published - 1998
Externally published	Yes

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AU - Coppin, Brian

AU - Dalton, Paola

AU - Dennis, Nicholas R.

AU - Mitchell, Caroline

AU - Sharp, Andrew J.

AU - Skuse, David H.

AU - Thomas, N. Simon

AU - Jacobs, Patricia A.

PY - 1998

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N2 - 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.

AB - 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.

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JO - Human Genetics

JF - Human Genetics

IS - 5

ER -

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

Abstract

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