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Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome
Author(s) -
Milani Donatella,
Cagnoli Giulia Anna,
Baccarin Marco,
Alfei Enrico,
Guerneri Silvana,
Esposito Susanna
Publication year - 2016
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12164
Subject(s) - phenotype , chromosome , epilepsy , genetics , biology , medicine , gene , neuroscience
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.