title: Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
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.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Erasmus University Medical Centre, Rotterdam, The Netherlands.
authors.forename: Joyce M G
authors.initials: JM
authors.lastname: Florisson
authors.forename: Irene M J
authors.initials: IM
authors.lastname: Mathijssen
authors.forename: Belinda
authors.initials: B
authors.lastname: Dumee
authors.forename: Jeannette A M
authors.initials: JA
authors.lastname: Hoogeboom
authors.forename: Pino J
authors.initials: PJ
authors.lastname: Poddighe
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Frijns
authors.forename: Linda
authors.initials: L
authors.lastname: Koster
authors.forename: Annelies
authors.initials: A
authors.lastname: de Klein
authors.forename: Bert
authors.initials: B
authors.lastname: Eussen
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: Sigrid
authors.initials: S
authors.lastname: Swagemakers
authors.forename: Peter J
authors.initials: PJ
authors.lastname: van der Spek
authors.forename: Annemieke J M H
authors.initials: AJ
authors.lastname: Verkerk
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D025202:Molecular Diagnostic Techniques; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome