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Three new cases of trisomy 8 mosaicism are presented; two have features corresponding with those usually found in this syndrome, whereas one is highly atypical. In view of the almost universal mosaicism of these patients, the literature is reviewed with an emphasis on the patterns of mosaicism found. There is little correlation between degree of mosaicism and extent of clinical abnormality. The degree of mosaicism differs in different tissues, fibroblasts being more informative of aneuploidy than lymphocytes, and there is some evidence that the degree of mosaicism varies with time. The reasons for these findings are discussed, with particular reference to the raised paternal age found in a proportion of the reported cases.
A C Berry, and
D E Mutton, and
D G Lewis
January 2002,
Journal of applied genetics,
A C Berry, and
D E Mutton, and
D G Lewis
December 1974,
Helvetica paediatrica acta,
A C Berry, and
D E Mutton, and
D G Lewis
December 1988,
Zeitschrift fur Kinder- und Jugendpsychiatrie,
A C Berry, and
D E Mutton, and
D G Lewis
December 1974,
Helvetica paediatrica acta,
A C Berry, and
D E Mutton, and
D G Lewis
October 1974,
American journal of diseases of children (1960),
A C Berry, and
D E Mutton, and
D G Lewis
October 1977,
Orvosi hetilap,
A C Berry, and
D E Mutton, and
D G Lewis
February 1975,
Archives francaises de pediatrie,
A C Berry, and
D E Mutton, and
D G Lewis
October 1972,
Archives francaises de pediatrie,
A C Berry, and
D E Mutton, and
D G Lewis
January 1997,
Annals of clinical and laboratory science,
