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.
Djalali
M
M
Abteilung Klinische Genetik, Universität, Ulm, F.R.G.
Barbi
G
G
Grab
D
D
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