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Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

Abstract：

:Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, overweight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Rocca MS,Faletra F,Devescovi R,Gasparini P,Pecile V

doi

10.1016/j.ejmg.2012.10.008

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

62-5

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(12)00286-8

journal_volume

56

pub_type

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