2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.

Abstract:

:2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations. Based on the present and published patients with 2q33 deletions, we suggest that the critical region for the Glass syndrome may be larger than initially proposed. Moreover, we suggest that brain abnormalities might be an additional feature of the 2q33 microdeletion syndrome, but that anorectal malformation is likely not a key marker.

journal_name

Cytogenet Genome Res

authors

Ronzoni L,Novelli A,Brisighelli G,Peron A,Triulzi F,Bianchi V,Leva E,Bedeschi MF

doi

10.1159/000452090

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

23-28

issue

1

eissn

1424-8581

issn

1424-859X

pii

000452090

journal_volume

150

pub_type

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