Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter)

Prenat Diagn. 1993 Oct;13(10):983-8. doi: 10.1002/pd.1970131013.

Abstract

Ultrasound examination of a 31-year-old woman at 27 weeks' gestation revealed fetal growth retardation, a bilateral cleft lip and palate, and the absence of median cerebral structures. Chromosome analysis after cordocentesis showed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7: 46,XX,-7,+der(7),t(7;18) (q34;q21.3)mat. The pregnancy was terminated at week 29. The ultrasound findings were confirmed by post-mortem examination, which also revealed a semilobar holoprosencephaly.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abortion, Therapeutic
  • Adult
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18*
  • Chromosomes, Human, Pair 7*
  • Cleft Lip / diagnostic imaging
  • Cleft Lip / genetics
  • Cleft Palate / diagnostic imaging
  • Cleft Palate / genetics
  • Cordocentesis
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics
  • Fetal Growth Retardation / diagnostic imaging
  • Fetal Growth Retardation / genetics
  • Holoprosencephaly / diagnostic imaging
  • Holoprosencephaly / genetics
  • Humans
  • Karyotyping
  • Pregnancy
  • Pregnancy Trimester, Second
  • Translocation, Genetic*
  • Trisomy*
  • Ultrasonography, Prenatal