Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement

Prenat Diagn. 2005 Apr;25(4):292-5. doi: 10.1002/pd.1105.

Abstract

The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abortion, Eugenic
  • Adult
  • Amniocentesis
  • Chromosome Banding
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 3 / genetics*
  • Female
  • Gene Rearrangement / genetics*
  • Gestational Age
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphangioma, Cystic / diagnosis
  • Lymphangioma, Cystic / genetics
  • Male
  • Pregnancy
  • Prenatal Diagnosis*
  • Trisomy* / diagnosis
  • Trisomy* / genetics
  • Ultrasonography, Prenatal