Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1)

R S Murray, J W Keeling, P M Ellis, D R FitzPatrick

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

We report a female fetus of 20 weeks gestation with severe symmetrical deformity affecting all four limbs. These deformities were unusual in that there was upper limb peromelia and lower limb phocomelia. No additional major malformations were identified on postmortem examination. In particular there was no evidence of splenogonadal fusion or micrognathia and hypoglossia. The limb malformations in this case are associated with a de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1). The cytogenetic features of Roberts-SC phocomelia syndrome were not detected. Unfortunately, the fibroblast line died and no FISH or DNA analysis could be carried out. In spite of this, the case is presented as it may be useful to other researchers in the selection of candidate genes for mendelian forms of peromelia and phocomelia.
Original languageEnglish
Pages (from-to)87-90
Number of pages4
JournalClinical dysmorphology
Volume11
Issue number2
Publication statusPublished - Apr 2002

Keywords / Materials (for Non-textual outputs)

  • Amniocentesis
  • Chromosome Banding
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 2
  • Ectromelia
  • Female
  • Fetus
  • Humans
  • Karyotyping
  • Lower Extremity Deformities, Congenital
  • Pregnancy
  • Translocation, Genetic
  • Upper Extremity Deformities, Congenital

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