Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn.
A case of true fetal mosaicism 46,XY/47,XY, + 17 was diagnosed in amniotic fluid cells. After genetic counselling and unsuccessful periumbilical blood sampling the pregnancy continued to term, and a healthy male infant was born. Lymphocytes of the newborn had a normal karyotype. Follow-up of the child at age 18 months showed normal physical and mental development indicating that the trisomic cell line was restricted most probably to the extra fetal tissue.
Abteilung Klinische Genetik, Universität, Ulm, F.R.G.
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Djalali
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Barbi
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Grab
D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000000981:diagnostic imaging; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014314:Trisomy; D014463:Ultrasonography