title: Potocki-Shaffer syndrome: report of one case.
abstract: Potocki-Shaffer syndrome (PSS) results from deletion of proximal short arm of chromosome 11. We present a 14-month-old male baby with cardinal pictures of PSS such as bilateral parietal foraminae, abnormal craniofacial appearance, hypotonia and developmental delay. Cytogenetic study revealed deletion of chromosome 11 from p11.12 to p11.2 in this proband and his mother, but microsatellite marker study showed deletion only in this proband. Despite previous negative chromosome study, positive family history with two similarly affected elder siblings and the finding of bilateral parietal foraminae finally lead to the etiologic diagnosis.
authors.affiliation: Department of Pediatrics, Taipei Municipal Ho-Ping Hospital, Taipei, Taiwan.
authors.forename: Wei-Hsin
authors.initials: WH
authors.lastname: Chien
authors.forename: Whey-Chen
authors.initials: WC
authors.lastname: Sue
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Mei-Hsu
authors.initials: MH
authors.lastname: Su
authors.forename: Chen-Li
authors.initials: CL
authors.lastname: Lin
mesh_terms: D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D019465:Craniofacial Abnormalities; D002658:Developmental Disabilities / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications; D010294:Parietal Bone / Q000002:abnormalities*; D013577:Syndrome