Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.
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.
Kondoh
Yuki
Y
Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan.
Toma
Takaya
T
Ohashi
Hirofumi
H
Harada
Naoki
N
Yoshiura
Ko-ichiro
K
Ohta
Tohru
T
Kishino
Tatsuya
T
Niikawa
Norio
N
Matsumoto
Naomichi
N
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