Clinical features of microdeletion 9q22.3 (pat)

Abstract

Congenital anomaly syndromes manifesting overgrowth are rare, and only a small number of recognized or defined conditions are known to be associated with overgrowth. Some of them are related to genomic imprinting as a genetic cause. We report a girl who showed pre- and postnatal overgrowth who was found to have a 2.3-Mb deletion of 9q22.32 involving PTCH1, the gene responsible for Gorlin syndrome (nevoid basal cell carcinoma syndrome), by array-comparative genomic hybridization analysis. Clinical re-evaluation according to the diagnostic criteria was performed after identification of the PTCH1 deletion, and the patient was then diagnosed as having Gorlin syndrome. Further delineation involved unusual features including cerebellar dysplasia, an ectopic meninx on her shoulder, and an intraorbital hemangioma. Overgrowth is not a common finding in Gorlin syndrome. We reviewed 23 patients reported to have a 9q22 deletion. Five patients, including our patient, had overgrowth and loss of the paternal allele.