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Narrowing the deleted region associated with the 15q21 syndrome.

Abstract：

:Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon and poorly characterized. Few cases defined at the cytogenetic level have been reported with 15q21 deletions and characteristic facial dysmorphisms are present in all them. We report on the molecular characterization by array-CGH of a new patient with a 15q21 deletion and on the redefinition of a second patient previously studied with multicolor banding. The two deletions resulted to be similar and involve about 12 and 8 Mb, respectively. Our study might promote to delineate a better genotype-phenotype correlation associated with 15q21 deletions.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Pramparo T,Mattina T,Gimelli S,Liehr T,Zuffardi O

doi

10.1016/j.ejmg.2005.04.012

keywords:

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

346-52

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(05)00095-9

journal_volume

48

pub_type

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