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.

[img]PDF (Published Version) - Repository staff only - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
396Kb

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.

ID Code:21898
Item Type:Article (Refereed Research - C1)
Related URLs:
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%
Deposited On:07 Jun 2012 09:47
Last Modified:07 Jun 2012 18:02
Downloads:Total: 2
Last 12 Months: 2
Statistics:More Statistics

Repository Staff Only: item control page