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 "detected fetal abnormalities, termination of pregnancy" symptom

  • monosomy 21

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