740 Chromosomal microarray analysis for the molecular diagnosis of nevoid basal cell carcinoma syndrome and X-linked ichthyosis

Chromosomal microarray (CMA) analysis is able to confirm detailed genomic location of deleted regions. We performed CMA using the CytoScan HD array platform (Affymetrix, Santa Clara, CA, USA) about three cases of nevoid basal cell carcinoma syndrome (NBCCS) and a case of X-linked ichthyosis (XLI) which diagnosed by targeted exome sequencing and fluorescence in situ hybridization analysis, respectively. Among three cases of NBCCS, an approximately 7.93kb intragenic deletion of PTCH1 was detected in one case.

Source: Journal of Investigative Dermatology - April 27, 2018 Category: Dermatology Authors: Y. Matsudate, Y. Kubo, I. Imoto Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research