A study of females with deletions of the short arm of the X chromosome.
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.
James
R S
RS
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wilts, UK.
Coppin
B
B
Dalton
P
P
Dennis
N R
NR
Mitchell
C
C
Sharp
A J
AJ
Skuse
D H
DH
Thomas
N S
NS
Jacobs
P A
PA
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