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Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn
Author(s) -
Djalali M.,
Barbi G.,
Grab D.
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970110610
Subject(s) - trisomy , amniotic fluid , amniocentesis , mosaic , aneuploidy , obstetrics , medicine , biology , prenatal diagnosis , fetus , pregnancy , genetics , chromosome , gene , history , archaeology
Abstract 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.