title: De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome.
abstract: A newborn male infant was found to have an unusual pattern of congenital anomalies associated with an apparently balanced de novo reciprocal translocation: 46,XY,t(1;2)(p22;q22). The infant had a previously apparently undescribed multiple congenital anomalies and mental retardation syndrome.
authors.affiliation: Department of Medical Genetics, Shaughnessy Hospital, Vancouver, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: C L
authors.initials: CL
authors.lastname: Fagerstrom
authors.forename: D K
authors.initials: DK
authors.lastname: Kalousek
authors.forename: J
authors.initials: J
authors.lastname: Rootman
authors.forename: G P
authors.initials: GP
authors.lastname: Taylor
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002889:Chromosomes, Human, Pair 2; D005124:Eye Abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic