De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome

Am J Med Genet. 1989 Jan;32(1):36-41. doi: 10.1002/ajmg.1320320109.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 2*
  • Eye Abnormalities*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Syndrome
  • Translocation, Genetic*