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DGAP Case # 031
NIGMS CCR Cell Line # GM05010
Karotype46,X,t(X;8;2)(q21.2;p11.2;q14.2)
Age19 yrs in 1981
Phenotypic Sexfemale
RaceWhite (not of Hispanic origin)
PhenotypePrimary amenorrhea, lack of secondary sexual development, pelvic echo showed no evidence of ovaries, only gonadal sheaths, small uterus, abnormal ECG, mild anteversion of the superior half of the left auricle and midline torus of the hard palate, incomplete syndactyly of second and third toes and clinodactyly of the fifth toe.
PubMed Link PMID: 3130848
Detailed Summary
Contact Investigator Cynthia Morton
Other Data