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Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.

Abstract:

We describe four children with dysmorphic syndrome with severe learning disability (SLD). Their chromosomes had been normal on conventional cytogenetic examination. However, screening using a multiprobe fluorescence in situ hybridisation (FISH) technique for subtelomeric abnormalities revealed a deletion of the p arm of chromosome 1. The physical features include body asymmetry, microcephaly, distinctive facies with deep-set eyes, sharply defined eye sockets, and mid-face hypoplasia; the neur...

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Publication status:
Published

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Publisher copy:
10.1017/s0012162200000347

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Journal:
Developmental medicine and child neurology
Volume:
42
Issue:
3
Pages:
201-206
Publication date:
2000-03-05
DOI:
EISSN:
1469-8749
ISSN:
0012-1622
URN:
uuid:410111d8-6230-431e-93df-22a03fae4a68
Source identifiers:
37312
Local pid:
pubs:37312

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