title: Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome.
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.
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: Giulia Anna
authors.initials: GA
authors.lastname: Cagnoli
authors.affiliation: Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Baccarin
authors.affiliation: Developmental Neurology Unit, Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Alfei
authors.affiliation: Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Guerneri
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
authors.forename: Susanna
authors.initials: S
authors.lastname: Esposito
keywords: 6q21-q22 deletion; NUS1; acro-cardio-facial syndrome; chromosome 6; epilepsy