title: Further characterization of microdeletion syndrome involving 2p15-p16.1.
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 single-nucleotide polymorphism (SNP) array showed a de novo 3.35 Mb 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.
authors.affiliation: Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, RS, Brazil. tfelix@hcpa.ufrgs.br
authors.forename: Têmis Maria
authors.initials: TM
authors.lastname: Félix
authors.forename: Aline Lourenço
authors.initials: AL
authors.lastname: Petrin
authors.forename: Maria Teresa Vieira
authors.initials: MT
authors.lastname: Sanseverino
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D004247:DNA
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