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: Yuki Kondoh, Takaya Toma, Hirofumi Ohashi, Naoki Harada, Ko-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 120A Issue 1 Pg. 123-6 (Jul 01 2003) ISSN: 1552-4825 [Print] United States
• PMID: 12794704 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2003 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple
• Child
• Chromatids (ultrastructure)
• Chromosome Banding
• Chromosomes (ultrastructure)
• Chromosomes, Human, Pair 4
• Developmental Disabilities (genetics)
• Facies
• Female
• Gene Deletion
• Gene Duplication
• Humans
• In Situ Hybridization, Fluorescence
• Karyotyping
• Models, Genetic
• Multigene Family
• Phenotype
• Seizures (genetics)
• Syndrome