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Deletion short arm 18 and Silver-Russell syndrome.

Authors
  • Christensen, M F
  • Nielsen, J
Type
Published Article
Journal
Acta paediatrica Scandinavica
Publication Date
Jan 01, 1978
Volume
67
Issue
1
Pages
101–103
Identifiers
PMID: 626060
Source
Medline
License
Unknown

Abstract

A 14-year-old boy presented with physical signs of the Silver-Russell syndrome. He further had low-set, large protruding ears, ptosis, broad nasal base, thick protruding lips, pronounced caried, malaligment of teeth, micrognathia and mental retardation. Chromosome examination showed deletion of the short arms of chromosome No. 18. It is concluded that considering the previous findings of chromosome No. 18 aberrations in some patients with Silver-Russell syndrome such patients should always have chromosome examination made.

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