Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome. (2nd July 2016) - Milani, Donatella
Abstract: Deletions on chromosome 6q are rarely reported in the literature, and genotype‐phenotype correlations are poorly understood. We report a child with a deletion of the 6q21‐q22 chromosomal region, providing some intriguing results about the correlation between this region and acro‐cardio‐facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy.