Familial Turner syndrome.
作者信息
Verschraegen-Spae M R, Depypere H, Speleman F, Dhondt M, De Paepe A
机构信息
Faculty Centre for Medical Genetics, University Hospital Gent, Belgium.
出版信息
Clin Genet. 1992 Apr;41(4):218-20. doi: 10.1111/j.1399-0004.1992.tb03666.x.
Abstract
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.
摘要
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