Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.

We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array analysis. In addition, myopia, microcephaly and growth retardation were observed. The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM 600140), whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome, and the adenylate cyclase 9 gene (ADCY9, MIM 603302). By comparing the clinical manifestations of our patient with those of patients carrying similar rearrangements, we confirmed that 16p13.3 microduplications of the Rubinstein-Taybi region result in a recognizable clinical condition that likely represents a single gene disorder. In addition, our case allowed us to define with more precision the smallest region of overlap (SRO) in all patients reported so far, encompassing only the CREBBP gene, and is useful to confirm and further define the phenotypic characteristics due to duplication of the CREBBP gene, being the first case of interstitial duplication with microcephaly and growth defects reported to date.
AuthorsTeresa Mattina, Orazio Palumbo, Raffaella Stallone, Rita Maria Pulvirenti, Laura Di Dio, Piero Pavone, Massimo Carella, Lorenzo Pavone
JournalEuropean journal of medical genetics (Eur J Med Genet) Vol. 55 Issue 12 Pg. 747-52 (Dec 2012) ISSN: 1878-0849 [Electronic] Netherlands
PMID23032921 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
CopyrightCopyright © 2012 Elsevier Masson SAS. All rights reserved.
  • Abnormalities, Multiple (diagnosis, genetics)
  • Child
  • Chromosome Banding
  • Chromosome Duplication
  • Chromosomes, Human, Pair 16
  • Facies
  • Foot Deformities, Congenital (genetics, radiography)
  • Genetic Association Studies
  • Genome-Wide Association Study
  • Hand Deformities, Congenital (genetics, radiography)
  • Humans
  • Intellectual Disability (diagnosis, genetics)
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide

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