title: A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.
abstract: Proximal interstitial deletions involving 20q11-q12 are very rare. Only two cases have been reported. We describe another patient with 20q11.21-q12 deletion. We precisely mapped the 6.5-Mb deletion and successfully determined the deletion landmarks at the nucleotide level. Common clinical features among the three cases include developmental delay, intractable feeding difficulties with gastroesophageal reflux, and facial dysmorphism including triangular face, hypertelorism, and hypoplastic alae nasi, indicating that the 20q11.2-q12 deletion can be a clinically recognizable syndrome. This is also supported by the fact that the three deletions overlap significantly. In addition, unique features such as arthrogryposis/fetal akinesia (hypokinesia) deformation and retinal dysplasia are recognized in the patient reported herein.
authors.affiliation: Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura
authors.forename: Michiko
authors.initials: M
authors.lastname: Hayashidani
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Terada
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Sachiko
authors.initials: S
authors.lastname: Nishina
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D006801:Humans; D018476:Hypokinesia / Q000235:genetics / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D015792:Retinal Dysplasia / Q000235:genetics / Q000473:pathology
chemical_list: D017931:DNA Primers