Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability

Jordan, M.A., Marques, I., Rosendorff, J., and de Ravel, T.J.L. (1998) Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytogenetic variability. Genetic Counseling, 9 (2). pp. 139-146.

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Abstract

Trisomy 8 mosaicism is extremely variable in its phenotypic and cytogenic expression. We present five patients clearly demonstrating the lack of correlation between clinical and laboratory findings, and show that the aneuploid cell lines decreases with time in relation to the normal. This poses a counseling dilemma.

Item ID: 21898
Item Type: Article (Refereed Research - C1)
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ISSN: 1015-8146
Date Deposited: 06 Jun 2012 23:47
FoR Codes: 06 BIOLOGICAL SCIENCES > 0604 Genetics > 060405 Gene Expression (incl Microarray and other genome-wide approaches) @ 100%
SEO Codes: 92 HEALTH > 9299 Other Health > 929999 Health not elsewhere classified @ 100%
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