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Further Characterization of Microdeletion Syndrome Involving 2p15-p16.1
Journal article   Open access   Peer reviewed

Further Characterization of Microdeletion Syndrome Involving 2p15-p16.1

Têmis Maria Félix, Aline Lourenço Petrin, Maria Teresa Vieira Sanseverino and Jeffrey C Murray
American journal of medical genetics. Part A, Vol.152A(10), pp.2604-2608
10/2010
DOI: 10.1002/ajmg.a.33612
PMCID: PMC2946431
PMID: 20799320
url
https://www.ncbi.nlm.nih.gov/pmc/articles/2946431View
Open Access

Abstract

We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root and camptodactyly. Analysis of a dense whole genome SNP array showed a de novo 3.35Mb deletion on 2p15-p16.1. In order to study the parental origin of the deletion we analyzed selected SNPs in the deleted area in the proband and her parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Based on the five cases described previously in the literature, we have narrowed the critical region responsible for the 2p15-p16.1 microdeletion syndrome phenotype. The critical region does not include the VRK2 gene that had been speculated to have a role in cortical dysplasia. However, the association of the VRK2 gene with cortical dysplasia remains to be determined, as MRI imaging of the brain and gene content of the 2p15-16 deletion becomes established in more patients.
 paternal origin microdeletion chromosome 2

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