Low-level mosaicism for both trisomy 15 and monosomy-X in amniotic fluid cells confirmed in fetal tissues
✍ Scribed by K. Hansson; W. M. J. Poelma; H. A. Zondervan; N. J. Leschot
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 123 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
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.