Ullrich-Turner syndrome in mother and daughter: prenatal diagnosis of a 46,X,del(X)(p21) offspring from a 45,X mother with low-level mosaicism for the del(X)(p21) in one ovary.
A woman with Ullrich-Turner syndrome but with normal secondary sex characteristics became pregnant on two occasions (ages 23 and 24). She had a 45,X karyotype in 100/100 lymphocytes and 50/50 skin fibroblasts. The first pregnancy ended in a miscarriage at 2 months of gestation. In the second pregnancy cultured amniocytes showed a 46,X,del(X)(p21) karyotype. This pregnancy resulted in an apparently normal girl. Biopsies of the mother's ovaries were obtained at the time of cesarean section. Grossly the ovaries appeared normal, and histologically the number of primordial follicles appeared normal. In the right ovary, 5/100 cells were 46,X,del(X)(p21), while all 100 cells in the left ovary were 45,X.
Varela
M
M
Human Genetics Program, Tulane Medical Center, New Orleans, LA 70112.
Shapira
E
E
Hyman
D B
DB
D000328:Adult; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D010053:Ovary / Q000648:ultrastructure; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*