Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.

Abstract:

:A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.

journal_name

Cytogenet Genome Res

authors

Papoulidis I,Paspaliaris V,Papageorgiou E,Siomou E,Dagklis T,Sotiriou S,Thomaidis L,Manolakos E

doi

10.1159/000381568

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

19-24

issue

1

eissn

1424-8581

issn

1424-859X

pii

000381568

journal_volume

145

pub_type

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