Familial Turner syndrome.
A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductive life-span. Phenotypic implications of the cytogenetic findings in the patients are discussed, and literature data on fertility in Turner syndrome are briefly reviewed.
Verschraegen-Spae
M R
MR
Faculty Centre for Medical Genetics, University Hospital Gent, Belgium.
Depypere
H
H
Speleman
F
F
Dhondt
M
M
De Paepe
A
A
D000328:Adult; D005260:Female; D005298:Fertility / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome