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- Title
Prenatal diagnosis of a fetus with distal 10q trisomy.
- Authors
Chen, Chih-Ping; Shih, Jin-Chung; Lee, Chen-Chi; Chen, Li-Feng; Wang, Wayseen; Wang, Tao-Yeuan; Chen, C P; Shih, J C; Lee, C C; Chen, L F; Wang, W; Wang, T Y
- Abstract
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
Prenatal Diagnosis, 1999, Vol 19, Issue 9, p876
- ISSN
0197-3851
- Publication type
journal article
- DOI
10.1002/(SICI)1097-0223(199909)19:9<876::AID-PD651>3.0.CO;2-8