Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

W F M Arts, Y Hofstee, G F Drejer, G C Beverstock, J C Oosterwijk

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26 Citations (Scopus)

Abstract

A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A maternal uncle had died at the age of 4 years with the same clinical picture. After reviewing the literature, we conclude that the monosomy 5p is the most likely cause for this malformation. We suggest that the possible existence of chromosomal anomalies should always be considered in the differential diagnosis of hypoplasia of the cerebellum and/or brainstem.

Original languageEnglish
Pages (from-to)41-44
Number of pages4
JournalNeuropediatrics
Volume26
Issue number1
DOIs
Publication statusPublished - Feb-1995

Keywords

  • CEREBELLAR HYPOPLASIA
  • BRAIN-STEM HYPOPLASIA
  • CRI-DU-CHAT SYNDROME
  • MONOSOMY 5P
  • TRISOMY 10P
  • CHROMOSOMAL TRANSLOCATION
  • CHAT SYNDROME
  • CRI

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