Prenatal diagnosis of a fetus with distal 10q trisomy

Prenat Diagn. 1999 Sep;19(9):876-8. doi: 10.1002/(sici)1097-0223(199909)19:9<876::aid-pd651>;2-8.


Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational weeks because her husband had a familial history of congenital anomalies. Genetic amniocentesis was thus performed and showed fetal distal 10q trisomy (10q24.1-->qter), 46,XX,der(22)t(10;22)(q24.1;p11.2)pat, resulting from paternal t(10;22) reciprocal translocation. Level II ultrasonograms further demonstrated bilateral hydronephrosis, ventricular septal defect and facial dysmorphism ascertained by three-dimensional ultrasound. The pregnancy was terminated at 22 gestational weeks. Post-mortem autopsy confirmed the sonographic findings. We suggest that abnormal prenatal sonographic findings such as cardio-vascular, renal and facial malformations should alert cytogeneticists to search for subtle chromosomal abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 10*
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Humans
  • Karyotyping
  • Pregnancy
  • Pregnancy Trimester, Second
  • Trisomy*
  • Ultrasonography, Prenatal*