title: 6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay.
abstract: We present an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay, poor wound healing and a 6p21.2-p12.3 deletion detected by aCGH. The patient was previously found to have a normal karyotype on conventional cytogenetic analysis and no RUNX2 mutation on sequence analysis. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CUL7, VEGFA, NFKBIE and RUNX2 in this case.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Yu-Peng
authors.initials: YP
authors.lastname: Liu
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Peih-Shan
authors.initials: PS
authors.lastname: Wu
authors.forename: Yu-Ting
authors.initials: YT
authors.lastname: Chen
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.forename: Chen-Chi
authors.initials: CC
authors.lastname: Lee
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D044842:Cullin Proteins / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D057895:Haploinsufficiency; D006801:Humans; D020672:I-kappa B Proteins / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D008677:Metaphase; D009154:Mutation; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics; D014945:Wound Healing / Q000235:genetics
chemical_list: C506299:CUL7 protein, human; D050659:Core Binding Factor Alpha 1 Subunit; D044842:Cullin Proteins; D020672:I-kappa B Proteins; C105627:NFKBIE protein, human; D011518:Proto-Oncogene Proteins; C493709:RUNX2 protein, human; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A