1. Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome
- Author
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Peter J. van der Spek, Joyce M.G. Florisson, Bert B.A. de Vries, Pino J. Poddighe, Bert Eussen, Irene M.J. Mathijssen, Ben A. Oostra, Jeannette A.M. Hoogeboom, Jean Pierre Frijns, Linda Koster, Annelies de Klein, Annemieke J.M.H. Verkerk, Belinda Dumee, Sigrid M. A. Swagemakers, Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, and Pathology
- Subjects
Adult ,Male ,Microcephaly ,Adolescent ,Developmental Disabilities ,Abnormal Karyotype ,Complex craniosynostosis ,Polymorphism, Single Nucleotide ,Craniosynostosis ,Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3] ,Fingers ,Craniosynostoses ,Genetics ,Humans ,Medicine ,Abnormalities, Multiple ,Child ,Genetic Association Studies ,Genetics (clinical) ,Oligonucleotide Array Sequence Analysis ,Renal disorder [IGMD 9] ,medicine.diagnostic_test ,business.industry ,Infant ,Syndrome ,Microdeletion syndrome ,medicine.disease ,2p15p16.1 microdeletion syndrome ,Phenotype ,Molecular Diagnostic Techniques ,Attention Deficit Disorder with Hyperactivity ,Child, Preschool ,Chromosomes, Human, Pair 2 ,Chromosomal region ,Female ,Chromosome Deletion ,business ,Fluorescence in situ hybridization ,SNP array - Abstract
In a screening project of patients with (complex) craniosynostosis using genomic arrays, we identified two patients with craniosynostosis and microcephaly with a deletion in the 2p15p16.1 chromosomal region. This region has been associated with a new microdeletion syndrome, for which patients have various features in common, including microcephaly and intellectual disability. Deletions were identified using Affymetrix 250K SNP array and further characterized by fluorescence in situ hybridization (FISH) analysis and qPCR. The deletions in our two patients overlapped within the 2p15p16.1 microdeletion syndrome area and were 6.8 and 6.9 Mb in size, respectively. FISH and qPCR confirmed the presence of only one copy in this region. Finemapping of the breakpoints indicated precise borders in our patients and were further finemapped in two other previously reported patients. Clinical features of patients with deletions in the 2p15p16.1 region vary. Including data from our patients, now eight out of nine reported patients have microcephaly, one of the major features, and all had intellectual disability. The current reported two patients add different forms of craniosynostosis to the clinical spectrum of this recently recognized microdeletion syndrome. © 2013 Wiley Periodicals, Inc.
- Published
- 2013
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