Down's Syndrome with 47,XX,+21/47,XX,+mar Mosaicism

AUTOR(ES)

Weber, Felice M.

RESUMO

A four-year-old girl with typical Down's syndrome is described. She has 47,XX,+21 karyotype in skin and lymphocytes and 47,XX,+mar karyotype in some lymphocytes. Autoradiography and fluorescent analyses have failed to identify the +mar chromosome which has the appearance of a `D' chromosome but which may involve a translocation to a chromosome No. 21. However, the mechanisms of its formation and its significance are not certain.

Documentos Relacionados

• Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome
• Parental mosaicism in de novo translocation (21q21q) Down's syndrome.
• Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.
• Chromosome Mosaicism in an Indian Child with Down's Syndrome
• Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.