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A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

Abstract:

Over recent years, submicroscopic subtelomeric rearrangements have been shown to be a significant cause of mental retardation and, therefore, such abnormalities should be considered in every child with moderate to severe retardation with additional features suggestive of a chromosomal abnormality. The FG syndrome is an X-linked recessive mental retardation syndrome with congenital hypotonia, relative macrocephaly, a characteristic facies and constipation. We describe a severely mentally retar...

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Publication status:
Published

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Authors


de Vries, BB More by this author
Bitner-Glindzicz, M More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
MacDermont, KD More by this author
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Journal:
Clinical genetics
Volume:
58
Issue:
6
Pages:
483-487
Publication date:
2000-12-05
DOI:
EISSN:
1399-0004
ISSN:
0009-9163
URN:
uuid:e7272a02-3f70-4dfa-9878-7b26aa235f19
Source identifiers:
37658
Local pid:
pubs:37658

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