Extra dicentric 15pter→q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities

M. Zannotti, A. Preto, P. R. Giovanardi, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Five unrelated patients with a supernumerary chromosome derivative of chromosome 15 are described. The clinical findings in the present series of cases show a gross concordance with the data previously reported in subjects with similar aberrations and allow the delineation of a distinct syndrome. Although undetermined variation in the structure of these extra chromosomes may contribute significantly to phenotypic heterogeneity, the patients display a rather common constellation of retardation, seizures, hypotonia, behavioural disturbances, and reduced total ridge count on fingertips. Patients with partial trisomy 15q- resulting from dicentric chromosomes bear little resemblance to patients carrying 15q- chromosomes arising de novo or due to unbalanced translocations.

Original languageEnglish
Pages (from-to)235-242
Number of pages8
JournalJournal of Mental Deficiency Research
Volume24
Issue number4
Publication statusPublished - 1980

ASJC Scopus subject areas

  • Psychiatry and Mental health

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