Familial Turner syndrome. Verschraegen-Spae, M. R., Depypere, H, Speleman, F., Dhondt, M, & Paepe, A. D. Clinical genetics, 41(4):218--20, April, 1992. Paper abstract bibtex 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.
@article{ Verschraegen-Spae1992,
author = {Marie Rose Verschraegen-Spae and H Depypere and Frank Speleman and M Dhondt and Anne De Paepe},
title = {Familial Turner syndrome.},
journal = {Clinical genetics},
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.},
issn = {0009-9163},
month = {April},
pages = {218--20},
volume = {41},
number = {4},
url = {http://www.ncbi.nlm.nih.gov/pubmed/1576760} ,
year = {1992}
}
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