CONSIDERAZIONI SU CINQUE CASE DI SINDROME DI 'CRI DU CHAT'

Translated title of the contribution: Five cases of 'cri du chat'

P. Cerruti Mainardi, M. G. Vianello, E. Bonioli

Research output: Contribution to journalArticlepeer-review

Abstract

The clinical course of 5 cases of 'cri du chat' syndrome followed from birth is reported. At follow up cytological examination using banding techniques was carried out. Of the 5 patients, 4 presented the typical deletion of the short arm of the 5th chromosome, the fifth case presenting a normal karyotype. The statural and ponderal hypotrophy presented at birth and in the early years corresponds to true dwarfism at puberty, in agreement with what has been reported with respect to most chromosomal aberrations with genic imbalance. The hypotonia typical of the early years becomes marked hypertonia in childhood and in the young adult. Mental retardation is severe.

Translated title of the contributionFive cases of 'cri du chat'
Original languageItalian
Pages (from-to)2389-2400
Number of pages12
JournalMinerva Pediatrica
Volume28
Issue number38
Publication statusPublished - 1976

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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