We investigated the parental origin of the extra chromosome 14 and of the two chromosomes 14 of the euploid cell line, in a case of fetal mosaicism 46,XX/47,XX+14 diagnosed at amniocentesis. Molecular analysis of five polymorphic loci of the short tandem repeat type was performed. Markers D14S43 and
A fetus with a 90,XX karyotype
✍ Scribed by José María Sánchez; Marcela Dubner; Silvia Lopez de Diaz; Gustavo Vilaseco
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 161 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
✦ Synopsis
A Fetus with a 90,XX Karyotype Cystic hygroma and non-immune fetal hydrops are both frequent findings in fetuses with X-monosomy. In the following case report we present a fetus with cystic hygroma and a very unusual karytoype: 90,XX. One identical case was reported by Fryns et al. (1987). Routine ultrasound scan at 20 weeks of amenorrhea was performed on a 21-year-old woman in her first pregnancy and a large cystic hygroma and oligoamnios were observed. After counselling the couple about the strong association between this malformation and a fetal abnormal karyotype-most commonly 45,X-an amniocentesis was performed. After the centrifugation of the 15 ml amniotic fluid sample, the cells were cultured in two flasks with Amniomax (Gibco) in an incubator with 5 per cent CO 2 . Once harvested, 50 cells from both flasks were analysed with G-banding. All the cells had a 90,XX karyotype (Fig. 1). This result was informed to the obstetrician who performed a new ultrasound scan that showed, in addition to cystic hygroma and oligoamnios, a severe hydrops and fetal bradicardia. The fetus died in utero five days later and was delivered after induction with prostaglandins. On post-mortem examination, the female fetus (Fig. 2) was Fig. 1-90,XX karyotype (G banded) in amniotic cells
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