A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions
- 8 November 2005
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 118 (5) , 640-651
- https://doi.org/10.1007/s00439-005-0081-1
Abstract
We have undertaken a clinical study of 26 females with deletions of Xp including five mother–daughter pairs. Cytogenetic and molecular analyses have mapped the breakpoints of the deletions. We determined the parental origin of each abnormality and studied the X-inactivation patterns. We describe the clinical features and compare them with the amount of Xp material lost. We discuss the putative loci for features of Turner syndrome and describe how our series contributes further to their delineation. We conclude that (1) fertility can be retained even with the loss of two-thirds of Xp, thus, if there are genes on Xp for ovarian development, they must be at Xp11–Xp11.2; (2) in our sample of patients there is no evidence to support the existence of a single lymphogenic gene on Xp; (3) there is no evidence for a second stature locus in proximal Xp; (4) there is no evidence to support the existence of a single gene for naevi; (5) we suggest that the interval in Xp21.1–Xp11.4 between DXS997 and DXS1368 may contain a gene conferring a predisposition to hypothyroidism.Keywords
This publication has 29 references indexed in Scilit:
- An excess of chromosome 1 breakpoints in male infertilityEuropean Journal of Human Genetics, 2004
- Hypergonadotropic Ovarian Failure Associated with an Inherited Mutation of Human Bone Morphogenetic Protein-15 (BMP15) GeneAmerican Journal of Human Genetics, 2004
- Molecular Analysis of Genes on Xp Controlling Turner Syndrome and Premature Ovarian Failure (POF)Seminars in Reproductive Medicine, 2001
- Atypical phenotype in a female with a large Xp deletionAmerican Journal of Medical Genetics, 2001
- The Turner Syndrome–Associated Neurocognitive Phenotype Maps to Distal XpAmerican Journal of Human Genetics, 2000
- The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndromeHuman Molecular Genetics, 2000
- Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1American Journal of Human Genetics, 1998
- Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndromeNature Genetics, 1997
- Deletion of the short arm of the X chromosome: A hereditary form of Turner syndromeEuropean Journal of Pediatrics, 1992
- Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromesAnnals of Human Biology, 1977