Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.

Eur J Med Genet 2013 Apr 28;56(4):202-6. Epub 2013 Jan 28.

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, 23 Riia Street, 51010 Tartu, Estonia.

The recent implementation of array techniques in research and clinical practice has revealed the existence of recurrent reciprocal deletions and duplications in several genome loci. The most intriguing feature is that some reciprocal genomic events can result in opposite phenotypic outcome. One of such examples is 5q35.2-q35.3. Deletions in this locus lead to Sotos syndrome characterized by childhood overgrowth with advanced bone age, craniofacial dysmorphic features including macrocephaly, and learning difficulties; while duplications have been proposed to manifest in opposite phenotype related to growth. Here, we report a patient with 5q35.2-q35.3 duplication and compare her clinical phenotype with five previously described cases. Short stature since the birth, microcephaly, brachydactyly, delayed bone age, mild to moderate intellectual disability and mild facial dysmorphism seem to be characteristic features of 5q35.2-q35.3 duplication.

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972121300026
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2013.01.008DOI Listing
April 2013
9 Reads
1 Citation
1.490 Impact Factor

Publication Analysis

Top Keywords

5q352-q353 duplication
8
sotos syndrome
8
bone age
8
macrocephaly learning
4
learning difficulties
4
including macrocephaly
4
features including
4
dysmorphic features
4
difficulties duplications
4
duplications proposed
4
opposite phenotype
4
manifest opposite
4
phenotypic outcome
4
proposed manifest
4
craniofacial dysmorphic
4
age craniofacial
4
lead sotos
4
locus lead
4
deletions locus
4
5q352-q353 deletions
4

Similar Publications