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Low‐level mosaicism for both trisomy 15 and monosomy‐X in amniotic fluid cells confirmed in fetal tissues
Author(s) -
Hansson K.,
Poelma W. M. J.,
Zondervan H. A.,
Leschot N. J.
Publication year - 1998
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/(sici)1097-0223(199809)18:9<975::aid-pd381>3.0.co;2-i
Subject(s) - trisomy , aneuploidy , amniotic fluid , monosomy , amniocentesis , down syndrome , fetus , prenatal diagnosis , karyotype , medicine , pathology , andrology , biology , obstetrics , pregnancy , chromosome , genetics , gene
We report here a case of true fetal mosaicism for both trisomy 15 and monosomy‐X; the aberrant cell lines were initially detected at amniocentesis as low‐level mosaicism (trisomy 15) and multiple‐cell pseudo‐mosaicism (monosomy‐X). In the fetal lymphocytes, only metaphases with a normal chromosome complement were observed. After termination of the pregnancy, various fetal biopsies revealed both trisomy 15 and monosomy‐X mosaicism, whereas, at autopsy, no external or internal abnormalities could be detected in the fetus. The karyotype can be described as 45,X[15]/47,XY,+15[3]/46,XY[27]. Our results implicate that an additional amniocentesis could be more helpful than fetal blood sampling in predicting the fetal karyotype after diagnosis of chromosome mosaicism at amniocentesis. © 1998 John Wiley & Sons, Ltd.