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4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

Urquhart, Jill; Black, Graeme C M; Clayton-Smith, Jill

Eur J Med Genet. 52(6):454-7.

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Abstract

We report a 4.5 Mb deletion of 2q33.1 in an individual with developmental delay and cleft palate. There have been various previous reports of deletions of 2q3, all with varying breakpoints and all larger than the current case. Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far.

Bibliographic metadata

Type of resource:
Content type:
Published date:
Abbreviated journal title:
ISSN:
Place of publication:
Netherlands
Volume:
52
Issue:
6
Pagination:
454-7
Digital Object Identifier:
10.1016/j.ejmg.2009.06.003
Pubmed Identifier:
19576302
Pii Identifier:
S1769-7212(09)00071-8
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:83936
Created by:
Black, Graeme
Created:
23rd June, 2010, 17:14:45
Last modified by:
Black, Graeme
Last modified:
15th April, 2014, 12:58:53

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