Rare Diseases Symptoms Automatic Extraction

Prenatal detection of monosomy 21 mosaicism.

[monosomy 21]

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.

Diseases presenting "amniotic fluid cell culture" symptom

  • monosomy 21

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