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Karyotype 45,XX,−21/46,XX,21q− in an infant with symptoms of G-deletion syndrome I

An infant with antimongoloid eye slants, achalasia, broad nose, one low-set large and one rudimentary ear lobe, and rudimentary nails with a retarded psychomotor development showed an 45,XX,−21/46,XX,21q− karyotype. By fluorescence and Giemsa staining it was shown that the missing or deleted chromos...

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Hlavní autoři: Mikkelsen, Margareta, Vestermark, S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1974
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013215/
https://ncbi.nlm.nih.gov/pubmed/4140913
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