interstitial chromosome 6 deletion
Interstitial deletions of chromosome 6q are a relatively rare finding. Deletions have ranged from the loss of a single band to larger deletions spanning multiple bands. The clinical phenotype varies, but some features commonly seen include cardiac anomalies, hypotonia, facial dysmorphism and mental retardation.
Synopsis
cardiac anomalies
hypotonia
facial dysmorphism
mental retardation
References
Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS. Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature. Clin Dysmorphol. 2007 Jul;16(3):135-40. PMID: 17551325