title: De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation.
abstract: Anorectal malformations (ARM) encompass a broad clinical spectrum which ranges from mild anal stenosis to severe anorectal anomalies such as complex cloacal malformations. The overall incidence of ARM is around 1 in every 2,500 live births. Although causative genes for a few syndromic forms have been identified, the molecular genetic background of most ARM remains unknown. The present report describes a patient with a de novo 13.2-Mb deletion of chromosome 18q22.3-qter and a 2.2-Mb de novo duplication of chromosomal region 18pter-p11.32 located at the telomeric end of chromosome 18q. The patient presented with ARM and the typical features of 18q- syndrome (De-Grouchy syndrome). The combination of a partial duplication of the short arm and a partial deletion of the long arm of chromosome 18 has been described in 16 previous cases. However, this is the first report of an association between this complex chromosomal rearrangement and ARM.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Bartels
authors.forename: M
authors.initials: M
authors.lastname: Draaken
authors.forename: B
authors.initials: B
authors.lastname: Kazmierczak
authors.forename: S
authors.initials: S
authors.lastname: Spranger
authors.forename: C
authors.initials: C
authors.lastname: Schramm
authors.forename: F
authors.initials: F
authors.lastname: Baudisch
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: E
authors.initials: E
authors.lastname: Schmiedeke
authors.forename: M
authors.initials: M
authors.lastname: Ludwig
authors.forename: H
authors.initials: H
authors.lastname: Reutter
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012007:Rectum / Q000002:abnormalities*; D014314:Trisomy