Prenatal diagnosis of a fetus with distal 10q trisomy.


Journal Article

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.

Full Text

Cited Authors

  • Chen, CP; Shih, JC; Lee, CC; Chen, LF; Wang, W; Wang, TY

Published Date

  • September 1999

Published In

Volume / Issue

  • 19 / 9

Start / End Page

  • 876 - 878

PubMed ID

  • 10521850

Pubmed Central ID

  • 10521850

Electronic International Standard Serial Number (EISSN)

  • 1097-0223

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/(sici)1097-0223(199909)19:9<876::aid-pd651>;2-8


  • eng