De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p

Am J Med Genet. 1994 Nov 15;53(3):216-21. doi: 10.1002/ajmg.1320530304.


We describe an infant boy with a unique de novo translocation involving chromosomes 1 and 4, resulting in dup(4q) and del(1p). His karyotype was 46,XY,-1,+der(1)t(1;4) (p36.2;q31.2). He had minor anomalies, congenital heart defect, respiratory distress, seizures, and central nervous system abnormalities. He died at age 11 weeks. The patient had manifestations of dup(4q) del(1p), and he was more seriously affected than patients having only one of these. No other patient with an identical chromosomal finding has been reported.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 4*
  • Fatal Outcome
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Translocation, Genetic*