De novo duplication 1q32-q42: Variability of phenotypic features in partial 1q trisomics

M. S. Lungarotti, A. Falorni, A. Calabro, F. Passalacqua, B. Dallapiccola

Research output: Contribution to journalArticle

Abstract

A de novo tandem duplication 1q32-q42 was observed in a 7-month-old mentally retarded and malformed male infant. Karyotype-phenotype correlation in other similar unbalanced trisomies has shown psychomotor retardation micro- or retrognathia or both, and low set or malpositioned ears to be the most common features associated with this newly recognised syndrome. However, after reviewing patients with duplications of regions 1q2, 3, and 4 and 1q2 and 3, it was concluded that similar non-specific clinical features are also present in these 1q imbalances. On the whole, a rather wide range in phenotypical expression has been observed in different cases. Thus it is concluded that, at present, it is impossible to delineate the profile of the syndromes resulting from partial 1q trisomies

Original languageEnglish
Pages (from-to)398-402
Number of pages5
JournalJournal of Medical Genetics
Volume17
Issue number5
Publication statusPublished - 1980

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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