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Article

Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.

American journal of medical genetics. Part A - 1 Jul 2003

Kondoh Yuki, Toma Takaya, Ohashi Hirofumi, Harada Naoki, Yoshiura Ko-ichiro, Ohta Tohru, Kishino Tatsuya, Niikawa Norio, Matsumoto Naomichi

Abstract excerpt

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...

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PMID: 12794704
DOI: 10.1002/ajmg.a.20208

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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