title: Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
abstract: Chromosome 2p15p16.1 microdeletion is an emerging syndrome recently described in patients with dysmorphic facial features, congenital microcephaly, mild to moderate developmental delay and neurodevelopmental abnormalities. Using clinical ultra-high resolution Affymetrix SNP 6.0 array we identified a de novo interstitial deletion on the short arm of chromosome 2, spanning approximately 2.5 Mb in the cytogenetic band position 2p15p16.1, in a female infant with characteristic features of 2p15p16.1 deletion syndrome including severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect. We further redefined the previously reported critical region, supporting the presence of a newly recognized microdeletion syndrome involving haploinsufficiency of one or more genes deleted within at least a 1.1 Mb segment of the 2p15p16.1 region.
authors.affiliation: Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
authors.forename: Vishwanathan
authors.initials: V
authors.lastname: Hucthagowder
authors.forename: Ta-Chiang
authors.initials: TC
authors.lastname: Liu
authors.forename: Alex R
authors.initials: AR
authors.lastname: Paciorkowski
authors.forename: Liu Lin
authors.initials: LL
authors.lastname: Thio
authors.forename: Martin S
authors.initials: MS
authors.lastname: Keller
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Anderson
authors.forename: Thomas
authors.initials: T
authors.lastname: Herman
authors.forename: Louis P
authors.initials: LP
authors.lastname: Dehner
authors.forename: Dorothy K
authors.initials: DK
authors.lastname: Grange
authors.forename: Shashikant
authors.initials: S
authors.lastname: Kulkarni
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D015529:Choledochal Cyst / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D012640:Seizures / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome