Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome

Bruno Dallapiccola, Giovanni Bollea, Cristina Mazzilli, Enrico Gandini

Research output: Contribution to journalArticle

Abstract

A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote for a complex translocation involving chromosomes 9, 21 and 22. The phenotypically normal sister of the propositus is also carrier of the same complex translocation.

Original languageEnglish
Pages (from-to)73-76
Number of pages4
JournalHuman Genetics
Volume33
Issue number1
DOIs
Publication statusPublished - Jan 1976

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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