title: A study of females with deletions of the short arm of the X chromosome.
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.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK.
authors.forename: R S
authors.initials: RS
authors.lastname: James
authors.forename: B
authors.initials: B
authors.lastname: Coppin
authors.forename: P
authors.initials: P
authors.lastname: Dalton
authors.forename: N R
authors.initials: NR
authors.lastname: Dennis
authors.forename: C
authors.initials: C
authors.lastname: Mitchell
authors.forename: A J
authors.initials: AJ
authors.lastname: Sharp
authors.forename: D H
authors.initials: DH
authors.lastname: Skuse
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: P A
authors.initials: PA
authors.lastname: Jacobs
mesh_terms: D000293:Adolescent; D000328:Adult; D018376:Cardiovascular Abnormalities; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007674:Kidney Diseases / Q000235:genetics; D008875:Middle Aged; D009139:Musculoskeletal Abnormalities; D010053:Ovary / Q000502:physiology; D010290:Parents; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome