Paternal trisomy 21 mosaicism and Down's anomaly

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9 Citations (Scopus)


A family is described in which the 1-year-old boy had clinical Down's syndrome with regular trisomy 21 in the karyotype. The mother was healthy, was aged 22 years at the birth of her son, and had a normal 46,XX karyotype. The father (23) was phenotypically also normal, but proved to be a mosaic for trisomy 21. Four of the 60 of his cells examined contained the 47,XY,21+ chromosome set. Since only a small proportion of cultured lymphocytes is usually trisomic in such mosaics, many similar cases could be overlooked in routine examinations.

Original languageEnglish
Pages (from-to)297-300
Number of pages4
JournalHuman genetics
Issue number4
Publication statusPublished - Dec 1 1973

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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