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Prenatal diagnosis of a fetus with distal 10q trisomy
Author(s) -
Chen ChihPing,
Shih JinChung,
Lee ChenChi,
Chen LiFeng,
Wang Wayseen,
Wang TaoYeuan
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199909)19:9<876::aid-pd651>3.0.co;2-8
Subject(s) - trisomy , amniocentesis , prenatal diagnosis , fetus , obstetrics , medicine , pregnancy , gestational age , aneuploidy , autopsy , gestation , chromosomal translocation , gynecology , pathology , biology , genetics , chromosome , gene
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. Copyright © 1999 John Wiley & Sons, Ltd.