Familial 9q22.3 Microdupiication Spanning PTCHi Causes Short Stature Syndrome With Mild Intellectual Disability and Dysmorphic Features

摘要

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 microdupiication at 9q22.3. On the basis of the described functions of the duplicated genes, PTCHI 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 microdupiication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region.