A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q

Am J Med Genet. 1989 Mar;32(3):376-9. doi: 10.1002/ajmg.1320320322.


Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 2*
  • Female
  • Humans
  • Infant, Newborn
  • Multigene Family
  • Radiography
  • Translocation, Genetic*