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. 1982;61(1):12-7.
doi: 10.1007/BF00291323.

Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency

L B Nielsen, K Boczkowski, M Mikkelsen, G Dahl, E Andersen

Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency

L B Nielsen et al. Hum Genet. 1982.

Abstract

Four girls with some clinical symptoms of Turner's syndrome had Xq duplication and Xp deficiency, their karyotypes being 46,X,dup(X)(p113;q11), 46,X,dup(X)(p212;q211), 46,X,dup(X)(p225;q13), and 46,X,dup(X)(p222;q213). No mosaicism was found. The major clinical findings, short stature, lack of pterygium colli, and no continuous gamete production, are compared with those in three previously published cases.

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