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Case Reports
Karyotype 45,XX,−21/46,XX,21q− in an infant with symptoms of G-deletion syndrome I
  1. Margareta Mikkelsen,
  2. S. Vestermark
  1. The John F. Kennedy Institute, Gl. Landevej 7, Denmark
  2. The Department of Pediatrics, Glostrup Hospital, DK 2600 Glostrup, Denmark

    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.

    https://doi.org/10.1136/jmg.11.4.389

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