Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome. (2nd July 2016)

• Record Type: Journal Article
• Authors: Milani, Donatella; Cagnoli, Giulia Anna; Baccarin, Marco; Alfei, Enrico; Guerneri, Silvana; Esposito, Susanna
• Is Part Of: Congenital anomalies. Volume 56:Number 4(2016)
• Page Start: 187
• Page End: 189
• Publication Date: 2016-07-02
• Subjects: 6q21‐q22 deletion -- acro‐cardio‐facial syndrome -- chromosome 6 -- epilepsy -- NUS1; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1111/cga.12164
• Languages: English
• ISSNs: 0914-3505

Abstract

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.