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18q- and 18q+ mosaicism in a mentally retarded boy.

Authors
  • Ausems, M G
  • Bhola, S L
  • Post-Blok, C A
  • Hennekam, R C
  • de France, H F
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Nov 15, 1994
Volume
53
Issue
3
Pages
296–299
Identifiers
PMID: 7856666
Source
Medline
License
Unknown

Abstract

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed.

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