title: A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation.
abstract: Chromosome analysis of cultured lymphocytes from an 18 year old mentally retarded boy with minor dysmorphic features revealed a de novo inverted insertion translocation involving chromosomes 1 and 2. The chromosome complement was interpreted as 46,XY, inv ins(1;2)(q44;p12pter). Parents were phenotypically normal with no chromosomal anomalies.
authors: Department of Biotechnology, Manipal Life Sciences Centre, Manipal University, Manipal, India.
authors: J
authors: J
authors: Neetha
authors: K M
authors: KM
authors: Girisha
authors: P M
authors: PM
authors: Gopinath
authors: M R
authors: MR
authors: Sekhar
mesh_terms: D000293:Adolescent; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D007446:Chromosome Inversion / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*