Trisomy 4p: Five new observations and overview

B. Dallapiccola, P. P. Mastroiacovo, E. Montali, A. Sommer

Research output: Contribution to journalArticle

Abstract

Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation. The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity. The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.

Original languageEnglish
Pages (from-to)344-356
Number of pages13
JournalClinical Genetics
Volume12
Issue number6
Publication statusPublished - 1977

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Dallapiccola, B., Mastroiacovo, P. P., Montali, E., & Sommer, A. (1977). Trisomy 4p: Five new observations and overview. Clinical Genetics, 12(6), 344-356.