46,XX,der(1)t(1 :12)(q43;p13.3)
In the conventional G-banded karyogram
(shown on the left) a small amount of additional
chromosomal material is not visible. The
karyogram by multiplex FISH on the right
shows a small extra band at the end of one chromosome
(1), shown by an arrow. The FISH
analysis reveals that the extra band at the end of
the long arm of a chromosome 1 (1 q) is derived
from a chromosome 12. The breakpoints could
be determined to be in chromosome 1 in region
4, band 3 (1q43) and chromosome 12 in region
1, band 3.3 (12p13.3).
Sunday, April 12, 2009
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