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. 1974 Dec;11(4):389–393. doi: 10.1136/jmg.11.4.389

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

Margareta Mikkelsen 1,2, S Vestermark 1,2
PMCID: PMC1013215  PMID: 4140913

Abstract

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 chromosome 21 was of paternal origin.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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