Insights into 6q21 ‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome

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.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fcga.12164

Source: Congenital Anomalies - July 1, 2016 Category: Genetics & Stem Cells Authors: Donatella Milani, Giulia Anna Cagnoli, Marco Baccarin, Enrico Alfei, Silvana Guerneri, Susanna Esposito Tags: Case Report Source Type: research