title: Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
abstract: We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an earlier age. These are macrocephaly, neonatal hypotonia, severe psychomotor retardation with markedly delayed motor milestones and speech development, epicanthic folds, a thin upper lip, a short and wide/webbed neck, pectus excavatum and (kypho)scoliosis. These features should alert the physician to an early diagnosis of the microdeletion and allow the initiation of essential clinical management hereof.
authors.affiliation: Centre for Human Genetics, UZ Leuven, Herestraat 49, 3000 Leuven, Belgium. thomy.deravel@uzleuven.be
authors.forename: Thomy J L
authors.initials: TJ
authors.lastname: de Ravel
authors.forename: Liliane
authors.initials: L
authors.lastname: Ameye
authors.forename: Katleen
authors.initials: K
authors.lastname: Ballon
authors.forename: Martine
authors.initials: M
authors.lastname: Borghgraef
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D019957:Motor Skills Disorders; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics; D013064:Speech Disorders; D013577:Syndrome
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface