Chromosome 8 trisomy mosaic syndrome
Mino, M.; Kasubuchi, Y.; Goto, M.; Onouchi, Z.; Kusunoki, T.
Jinrui Idengaku Zasshi. Japanese Journal of Human Genetics 21(2): 69-78
1976
ISSN/ISBN: 0021-5074 PMID: 1035340 Document Number: 106223
An additional case with trisomy 8 mosaicism, confirmed by G- and Q-banding techniques, is described. The present case had various anomalies. These included a prominent forehead, mental retardation, broad ala of the nose, convergent squint, absence of patellae, restricted articular function, clinodactyly, diaphragmatic herniation of the liver and hydronephrosis. Previously reported cases with trisomy 8 and trisomy 8 mosaicism were summarized, and it is apparent that the full trisomy closely resembles the mosaic phenotype except for absence of patellae.