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
Trisomy-8 mosaicism: Report of a case
โ Scribed by Margherita Cirillo Silengo; Gianfranco Davi; Giorgio Crua; Piergiorgio Franceschini
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 186 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0340-6717
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โฆ Synopsis
An 8-year-old male with mental retardation, speech difficulties, and minor congenital anomalies is presented. The clinical findings suggest the trisomy-8 syndrome. The karyotype indicates trisomy-8 mosaicism with trisomic as well as normal cell lines in blood lymphocytes.
๐ SIMILAR VOLUMES
We describe a patient with trisomy 8 mosaicism followed through a sixth pregnancy and discuss issues in phenotypic and genotypic variability, the risk for neoplasia, and reproductive risks.
While the clinical features associated with full trisomy 13 have been well characterized, the clinical outcome associated with mosaic trisomy 13 is much less clear. The medical literature reports a broad range of possible clinical outcomes from severe mental retardation and birth defects to normal i