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Familial Turner syndrome
Author(s) -
VerschraegenSpae MR.,
Dapypare H.,
Spalaman F.,
Dhondt M.,
Paepe A. Da
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03666.x
Subject(s) - turner syndrome , short stature , karyotype , turner's syndrome , amenorrhea , primary amenorrhea , x chromosome , genetics , gonadal dysgenesis , fertility , gynecology , biology , pediatrics , endocrinology , medicine , chromosome , pregnancy , population , environmental health , gene
Verschraegen‐Spae M‐R, Depypere H, Speleman F, Dhondt M, De Paepe A. Familial Turner syndrome. Clin Genet 1992:41: 218–220. 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.