title: A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies.
abstract: A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; tetralogy of Fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid malformation of the right upper lung, and hemilateral kidney defect. Chromosome analysis as well as fluorescence in situ hybridization (FISH) and polymorphic marker analyses in the girl and her parents revealed a de novo large interstitial deletion of 17p13.1-p11.2 of the paternally derived chromosome 17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both FISH analysis and radiological examinations that showed no migrational abnormality. The girl died at age 7 months. This is the first report of a patient with a large interstitial deletion of 17p.
authors.affiliation: Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. tyamamoto-jes@umin.ac.jp
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Hideaki
authors.initials: H
authors.lastname: Ueda
authors.forename: Motoyoshi
authors.initials: M
authors.lastname: Kawataki
authors.forename: Michiko
authors.initials: M
authors.lastname: Yamanaka
authors.forename: Toshihide
authors.initials: T
authors.lastname: Asou
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kondoh
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008168:Lung / Q000002:abnormalities; D018633:Pulmonary Atresia / Q000473:pathology; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000473:pathology