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  • Title: Familial Turner syndrome.
    Author: Verschraegen-Spae MR, Depypere H, Speleman F, Dhondt M, De Paepe A.
    Journal: Clin Genet; 1992 Apr; 41(4):218-20. PubMed ID: 1576760.
    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.
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