Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.
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ABSTRACT:
SUBMITTER: Mc Cormack A
PROVIDER: S-EPMC3690635 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
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Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.
Mc Cormack Adrian A Taylor Juliet J Gregersen Nerine N George Alice M AM Love Donald R DR
Case reports in genetics 20130609
We report on three patients with interstitial deletions of the long arm of chromosome 2 involving bands 2q32.1-q35. They presented with wide-ranging phenotypic variation including facial dysmorphisms, cleft palate, learning difficulties, behavioural issues and severe heart defects. Microarray analysis confirmed an 8.6 Mb deletion in patients 1 and 2 and a 24.7 Mb deletion in patient 3. We discuss the genes involved in the deleted regions including MYO1B, GLS, FRZB, SATB2, and CPS1 and compare th ...[more]
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