title: De novo translocation (8;12) and frontofacionasal dysplasia in a newborn boy.
abstract: We describe a newborn boy one of triplets, whose karyotype was 46,XY, t(8;12)(q22;q21). Prenatal diagnosis of multiple craniofacial anomalies had been made. Following delivery, the patient was thought to exhibit findings consistent with a diagnosis of frontofacionasal dysostosis. We hypothesize that one of the break points of this translocation may involve a gene essential to craniofacial development.
authors.affiliation: Department of Obstetrics and Gynecology, Baystate Medical Center, Springfield, Massachusetts 01199, USA.
authors.forename: J
authors.initials: J
authors.lastname: Habecker-Green
authors.forename: R
authors.initials: R
authors.lastname: Naeem
authors.forename: R M
authors.initials: RM
authors.lastname: Scott
authors.forename: C
authors.initials: C
authors.lastname: Kanaan
authors.forename: L
authors.initials: L
authors.lastname: Bayer-Zwirello
authors.forename: G
authors.initials: G
authors.lastname: Cohn
mesh_terms: D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004413:Dysostoses / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014310:Triplets