title: Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.
abstract: We report here a patient with features of Down syndrome and tetralogy of Fallot who had a 21q22 duplication. The extent of the duplication was defined using fluorescent hybridization probes that map to the critical region on chromosome 21. Included within the interval was the cell adhesion molecule DSCAM but not the collagen COL6A1. The present case provides further support to the concept that there exists Down syndrome-associated congenital heart disease gene(s) on chromosome 21q22 and that over-expression of DSCAM may contribute to the cardiac defects of Down syndrome.
authors.affiliation: Division of Medical Genetics, Saitama Children's Medical Center, Saitama 339-551, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Kazushige
authors.initials: K
authors.lastname: Matsushima
authors.forename: Norimasa
authors.initials: N
authors.lastname: Mitsui
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013771:Tetralogy of Fallot / Q000235:genetics*