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