Prenatal diagnosis of a fetus with distal 10q trisomy
Journal
Prenatal Diagnosis
Journal Volume
19
Journal Issue
9
Pages
876-878
Date Issued
1999
Author(s)
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.
Subjects
Congenital heart defect; Distal 10q trisomy; Facial dysmorphism; Hydronephrosis
SDGs
Other Subjects
amniocentesis; 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, Prenatal
Type
journal article