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Article

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

European journal of human genetics : EJHG - 1 Oct 2004

Zollino Marcella, Lecce Rosetta, Selicorni Angelo, Murdolo Marina, Mancuso Irene, Marangi Giuseppe, Zampino Giuseppe, Garavelli Livia, Ferrarini Alessandra, Rocchi Mariano, Opitz John M, Neri Giovanni

Abstract excerpt

A total of five Wolf-Hirschhorn syndrome (WHS) patient with a 4p16.3 de novo microdeletion was referred because of genotype-phenotype inconsistencies, first explained as phenotypic variability of the WHS. The actual deletion size was found to be about 12 Mb in three patients, 5 Mb in another one and 20 Mb in the last one, leading us to hypothesize the presence of an extrachromosome segment on the deleted 4p. A...

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PMID: 15241479
DOI: 10.1038/sj.ejhg.5201203

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

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