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

AUTOR(ES)

Mikkelsen, Margareta

RESUMO

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.

Documentos Relacionados

• Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.
• Down's syndrome associated with two Robertsonian translocations, 45,XX,−15,−21,+t(15q21q) and 46,XX,−21,+t(21q21q)
• Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects
• A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.
• 46,XY/46,XY,21q- mosaicism in an infant with neutropenia and properdin deficiency.