Article
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
Journal of medical genetics - 1 Oct 2007
Concolino Daniela, Rossi Elena, Strisciuglio Pietro, Iembo Maria Antonietta, Giorda Roberto, Ciccone Roberto, Tenconi Romano, Zuffardi Orsetta
Abstract excerpt
BACKGROUND: Recently the genotype/phenotype map of Wolf-Hirschhorn syndrome (WHS) has been refined, using small 4p deletions covering or flanking the critical region in patients showing only some of the WHS malformations. Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas microcephaly results...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
