Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation

Am J Med Genet. 1995 Mar 13;56(1):31-4. doi: 10.1002/ajmg.1320560109.


The association of rare chromosomal rearrangements involving a specific 17q breakpoint with campomelic syndrome (CMPS) and/or sex reversal (SR) has led to an assignment of the CMPS1/SRA1 locus to 17q24.3-->q25.1. We describe a patient with multiple anomalies and SR, who had a de novo t(12;17) translocation. The phenotype was consistent with that of CMPS except for the lack of lower limb bowing and talipes equinovarus. Chromosome painting indicated that the breakpoints appeared to have occurred at 12q21.32 and 17q24.3 or q25.1. This study suggests that acampomelic CMPD with SR represents a variant of the CMPS1/SRA1 locus disorder. We emphasize the likelihood that CMPS may be a contiguous gene syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Base Sequence
  • Chromosome Banding
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 17
  • Fatal Outcome
  • Female
  • Gonadal Dysgenesis, 46,XY / complications
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / genetics*
  • Syndrome
  • Translocation, Genetic*