Chen C.-P.JIN-CHUNG SHIHLee C.-C.Chen L.-F.Wang W.Wang T.-Y.2021-02-042021-02-0419990197-3851https://www.scopus.com/inward/record.uri?eid=2-s2.0-0032854697&doi=10.1002%2f%28SICI%291097-0223%28199909%2919%3a9%3c876%3a%3aAID-PD651%3e3.0.CO%3b2-8&partnerID=40&md5=ac256493f2abc047a1838e4f837e42f4https://scholars.lib.ntu.edu.tw/handle/123456789/548223Distal 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.Congenital heart defect; Distal 10q trisomy; Facial dysmorphism; Hydronephrosis[SDGs]SDG3amniocentesis; article; autopsy; case report; chromosome 10q; face malformation; family history; female; fetus; fetus echography; genetic counseling; heart ventricle septum defect; human; hydronephrosis; induced abortion; prenatal diagnosis; primigravida; priority journal; reciprocal chromosome translocation; trisomy; Adult; Chromosomes, Human, Pair 10; Female; Fetal Diseases; Humans; Karyotyping; Pregnancy; Pregnancy Trimester, Second; Trisomy; Ultrasonography, Prenataljournal article10.1002/(SICI)1097-0223(199909)19:9<876105218502-s2.0-0032854697