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Article

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.

American journal of medical genetics. Part A - 1 Aug 2011

Iwanowski Piotr S, Panasiuk Barbara, Van Buggenhout Griet, Murdolo Marina, Myśliwiec Marta, Maas Nicole M C, Lattante Serena, Korniszewski Lech, Posmyk Renata, Pilch Jacek, Zajączek Stanislaw, Fryns Jean-Pierre, Zollino Marcella, Midro Alina T

Abstract excerpt

The aim of this study was to obtain a quantitative definition of Wolf-Hirschhorn syndrome (WHS) through systematic phenotypic analyses in a group of six children with 4p15.32 → pter, 4p15.33 → pter, or 4p16.1 → pter monosomy (considered together as M4p16.1). These results were used for evaluation of the phenotypic effects of a double chromosome imbalance in one child with 4p16.1 → pter monosomy and additional...

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PMID: 21744486
DOI: 10.1002/ajmg.a.34005

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