title: Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.
abstract: An 8-year-old girl with a combination of clinical manifestations of partial duplication 4p and the Wolf-Hirschhorn syndrome was studied. Chromosomal G-banding and FISH analyses showed a 33.2-Mb segment of inverted duplication at 4p14-p16.3 and a 2.8-Mb segment of deletion at 4p16.3-pter (including the Wolf-Hirschhorn syndrome critical region). The chromosomes of the parents were normal. Her karyotype was thus 46,XX, inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) de novo. The inverted duplication deletion was assumed to have arisen through chromatid breakage at 4p16.3, U-type reunion at the breakpoints to produce a dicentric intermediate, breakage of the dicentric to result in a monocentric, and telomere capture/healing of the broken end. Olfactory receptor gene clusters at 4p16.3 were ruled out as an intermediary of the duplication deletion process.
authors.affiliation: Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kondoh
authors.forename: Takaya
authors.initials: T
authors.lastname: Toma
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Ko-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D002842:Chromatids / Q000648:ultrastructure; D002871:Chromosome Banding; D002875:Chromosomes / Q000648:ultrastructure; D002894:Chromosomes, Human, Pair 4; D002658:Developmental Disabilities / Q000235:genetics; D019066:Facies; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008957:Models, Genetic; D005810:Multigene Family; D010641:Phenotype; D012640:Seizures / Q000235:genetics; D013577:Syndrome