A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
| Autor: | Bernd Auber, Julia Schröder, Knut Brockmann, Iris Bartels, Dagmar Weise, Moneef Shoukier, Barbara Zoll, Gabriela Salinas-Riester, Julia Wickert, Peter Burfeind, Birgit Zirn |
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| Rok vydání: | 2011 |
| Předmět: |
Heart Defects
Congenital Male Microcephaly Pathology medicine.medical_specialty Craniofacial abnormality Limb Deformities Congenital Alpha-Ketoglutarate-Dependent Dioxygenase FTO Real-Time Polymerase Chain Reaction Corpus callosum Craniofacial Abnormalities 03 medical and health sciences Epilepsy Intellectual Disability Genetics Humans Medicine Craniofacial Genetics (clinical) 030304 developmental biology Comparative Genomic Hybridization 0303 health sciences Muscular hypotonia business.industry 030305 genetics & heredity Brain Infant Proteins Extremities medicine.disease Hypoplasia Phenotype Chromosomal region Muscle Hypotonia Chromosome Deletion business Chromosomes Human Pair 16 |
| Zdroj: | American Journal of Medical Genetics Part A. :229-235 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.34387 |
| Popis: | Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well-characterized microdeletions within this chromosomal region have been described. We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. Array comparative genomic hybridization (aCGH) revealed that the patient's features were likely caused by a 4.7 Mb de novo deletion on chromosome 16q12.1q12.2, which was confirmed by quantitative real-time PCR (qPCR). The psychomotor delay and craniofacial dysmorphism are more severe in our patient than previously reported patients. Unmasked recessive mutations in the ZNF423 and FTO genes on the remaining allele were excluded as the putative cause for this severe phenotype. In conclusion, the phenotypic spectrum of microdeletions in 16q12 is broad and comprises variable degrees of psychomotor delay and intellectual disability, craniofacial anomalies, and additional features, including heart defects, brain malformations, and limb anomalies. |
| Databáze: | OpenAIRE |
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