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.
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Received: 26 November 1997 / Accepted: 18 December 1997
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James, R., Coppin, B., Dalton, P. et al. A study of females with deletions of the short arm of the X chromosome. Hum Genet 102, 507–516 (1998). https://doi.org/10.1007/s004390050733
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DOI: https://doi.org/10.1007/s004390050733