Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report

J Korean Med Sci. 2003 Feb;18(1):112-3. doi: 10.3346/jkms.2003.18.1.112.

Abstract

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;-->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34-->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Abortion, Habitual / genetics
  • Abortion, Therapeutic
  • Adult
  • Chromosome Disorders / embryology
  • Chromosome Disorders / genetics*
  • Chromosomes, Human, Pair 2 / ultrastructure*
  • Chromosomes, Human, Pair 7 / ultrastructure*
  • Female
  • Fetal Diseases / genetics
  • Fetal Diseases / pathology
  • Fetus / abnormalities*
  • Humans
  • Male
  • Monosomy*
  • Phenotype
  • Pregnancy
  • Translocation, Genetic*
  • Trisomy*