Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues
โ Scribed by K. Swisshelm; M. L. Rodriguez; D. Luthy; D. Salk; T. Norwood
- Book ID
- 119839183
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 310 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0009-9163
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๐ SIMILAR VOLUMES
A case of prenatally diagnosed partial trisomy 8 is described. The 'syndrome' is associated with skeletal and cardiac anomalies, as well as hepatic calcification. Differing proportions of 47,XY,+der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+de
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 c
We report a case of mosaic trisomy 20, the most common autosomal mosaicism identified in amniocytes, ascertained in a woman referred for amniocentesis because of abnormal ultrasound at 18.1 weeks' gestation which revealed short femurs and nuchal thickening. Metaphase analysis of 98 clones revealed 4