title: Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.
abstract: Partial trisomy 9q involving the duplication of band 9q22 is manifested by a constellation of symptoms including short stature, intellectual disability, microcephaly, pyloric stenosis, facial dysmorphism, and various defects of the heart, distal extremities, eyes, thyroid, and esophagus. In three family members with growth retardation, mild intellectual disability, and mild facial dysmorphism, array-based comparative genomic hybridization analyses showed a familial microduplication at 9q22.3. On the basis of the described functions of the duplicated genes, PTCH1 represents a candidate gene that may be responsible for the phenotypic findings, although the 14 other genes in this duplicated segment may also contribute to the phenotype. The current report provides evidence to support a specific phenotype associated with a 9q22.3 microduplication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region.
authors.affiliation: Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA. izumik1@email.chop.edu
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
authors.forename: Amanda
authors.initials: A
authors.lastname: Hahn
authors.forename: Laurie
authors.initials: L
authors.lastname: Christ
authors.forename: Christine
authors.initials: C
authors.lastname: Curtis
authors.forename: Derek E
authors.initials: DE
authors.lastname: Neilson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D058674:Chromosome Duplication / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D020411:Oligonucleotide Array Sequence Analysis; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface