title: Clinical comparison of overlapping deletions of 19p13.3.
abstract: We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792 Kb to 1.0 Mb and included a common region arr [hg19] 19p13.3 (3,814,392-4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non-coding RNA's MIR637 and SNORDU37. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established.
authors.affiliation: Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, WA 98122, USA. rishegh@labcorp.com
authors.forename: Hiba
authors.initials: H
authors.lastname: Risheg
authors.forename: Romela
authors.initials: R
authors.lastname: Pasion
authors.forename: Stephanie
authors.initials: S
authors.lastname: Sacharow
authors.forename: Virginia
authors.initials: V
authors.lastname: Proud
authors.forename: LaDonna
authors.initials: L
authors.lastname: Immken
authors.forename: Stuart
authors.initials: S
authors.lastname: Schwartz
authors.forename: Jim H
authors.initials: JH
authors.lastname: Tepperberg
authors.forename: Peter
authors.initials: P
authors.lastname: Papenhausen
authors.forename: Tiong Y
authors.initials: TY
authors.lastname: Tan
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Ghislaine
authors.initials: G
authors.lastname: Plessis
authors.forename: David J
authors.initials: DJ
authors.lastname: Amor
authors.forename: Elisabeth A
authors.initials: EA
authors.lastname: Keitges
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D046228:Microarray Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D055815:Young Adult