title: Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
abstract: Microdeletions spanning 2p14-p15 have recently been described in two patients with developmental and speech delay and intellectual disability but no congenital malformations or severe facial dysmorphism. We report a 4-year-old boy with a de novo 3.7 Mb long deletion encompassing the region deleted in the previous cases. The patient had clinical features partly consistent with the published cases including intellectual disability, absent speech, microcephaly, long face, bulbous nasal tip and thin upper lip, but his overall clinical picture was more severe compared to the published patients. The identification of this additional patient and a detailed analysis of deletions identified in various patient cohorts and in normal individuals support the existence of a new rare microdeletion syndrome in 2p14-p15. Its critical region is in the vicinity of but clearly separate from the minimal region deleted in the well established 2p15-p16.1 microdeletion syndrome. A thorough comparison of the deletions and phenotypes indicates that multiple genes located in this region may be involved in intellectual functioning, and that some patients may show composite and more complex phenotypes due to deletions spanning both critical regions.
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
authors.forename: Miroslava
authors.initials: M
authors.lastname: Hancarova
authors.forename: Sarka
authors.initials: S
authors.lastname: Vejvalkova
authors.forename: Marie
authors.initials: M
authors.lastname: Trkova
authors.forename: Jana
authors.initials: J
authors.lastname: Drabova
authors.forename: Alzbeta
authors.initials: A
authors.lastname: Dleskova
authors.forename: Marketa
authors.initials: M
authors.lastname: Vlckova
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sedlacek
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D059785:Karyotype; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome