Dup(3)(p2----pter) in two families, including one infant with cyclopia

Am J Med Genet. 1985 Feb;20(2):341-8. doi: 10.1002/ajmg.1320200217.

Abstract

We report on 2 unrelated cases of duplication of distal 3p due to balanced maternal translocation t(3;6)(p23;q27) and t(2;3)(p25;p23) respectively. One family was ascertained through the unbalanced offspring and the other through echographic examination of the balanced carrier mother. These cases confirm that dup(3)(p2----pter) results in a characteristic syndrome with distinctive facial appearance. In family 2 inspection of a photograph of a deceased sib was sufficient to conclude that he was affected. The patient in family 2 had cyclopia. Since holoprosencephaly was also reported by Martin and Steinberg [1983], we conclude that this anomaly appears to be a sign of the syndrome. The duplication usually derives from a maternal balanced translocation, in most cases from adjacent-1 segregation. However, family 2 was ascertained through a balanced female carrier who inherited the translocation from the father. We have noted that the second chromosome (which varies without apparent preferences) involved in these translocations is broken consistently at a distal band.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Amniotic Fluid / cytology
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 6-12 and X
  • Eye Abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Male
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome
  • Translocation, Genetic