title: Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.
abstract: Clinical and molecular characteristics of two patients with a 6.75Mb overlapping interstitial deletion in the 8p12p21 region are described and compared with previously reported cases with an overlapping deletion. The most common characteristics of interstitial deletions of proximal 8p are developmental delay, postnatal microcephaly and growth retardation. Other frequently reported findings are hypogonadism associated with haploinsufficiency of GNRH1 and ocular problems. Congenital heart anomalies are also common and might at least to some extent be due to haploinsufficiency of NKX2-6 or NRG1. The aforementioned clinical characteristics should be considered in the care of patients with a proximal interstitial 8p12p21 deletion.
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. m.willemsen@antrg.umcn.nl
authors.forename: Marjolein H
authors.initials: MH
authors.lastname: Willemsen
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
authors.forename: Tjitske
authors.initials: T
authors.lastname: Kleefstra
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D020890:Neuregulin-1; D010641:Phenotype; D011498:Protein Precursors / Q000235:genetics
chemical_list: C094131:NRG1 protein, human; D009419:Nerve Tissue Proteins; D020890:Neuregulin-1; D011498:Protein Precursors; C050866:progonadoliberin I; D007987:Gonadotropin-Releasing Hormone