Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn

Am J Med Genet A. 2004 Jan 1;124A(1):85-8. doi: 10.1002/ajmg.a.20407.

Abstract

The first case of a fetal trisomy 6 mosaicism proven at 25 weeks of gestation by analysis of fetal urine cells is described. Chromosomal analysis was indicated by an ultrasonographically diagnosed heart defect at 21 weeks of gestation. The chromosomal aberration was detected in amniotic fluid cells while fetal blood cells showed a normal chromosome set. At term a boy with normal growth parameter was born. In addition to the expected heart defect, malformations of hands and feet were present.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 6 / genetics*
  • Female
  • Foot Deformities, Congenital / genetics*
  • Foot Deformities, Congenital / pathology
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mosaicism*
  • Phenotype
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Trisomy / diagnosis*