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Structural abnormalities - Coggle Diagram
Structural abnormalities
DELETION
Terminal
Interstitial
Cri du chat (loss of short arm of chromosome 5)
loss of retinoblastoma gene 13q elad to newborne retinoblastoma
chromosome 11
P
Wilm’s tumor
INVERSION
paracentric
pericentric
TRANSLOCATION
-Regular (reciprocal).
main pathological changes seen in malignancies
translocate
some
oncogenes
from their
normal position
to a
new one
where they are induced to function in
an
uncontrolled manner
leading to override of the body's regulatory
control mechanisms, ultimately leading to
malignancy
lymphomas
leukemias
Philadelphia chromosome
22 and 9
chronic myeloid leukemia
Burkitt's lymphoma
8 and 14
[other
than the acrocentric group of chromosomes
-Robertsonian (centric fusion)
translocation gamets fertilized by the normal gamete
Monosomic (i.e. 45) and it is eliminated by abortion early in pregnancy as all autosomal
monosomies.
Normal.
. Balanced carrier like the original parent with 45 count of chromosome.
Normal count (i.e. 46) but carries the translocated chromosome.
trisomic for the acrocentric chromosome
Down’s syndrome.
acrocentric chromosomes
ISOCHROMOSOMES
This abnormality results from aberrant division of the centromere horizontal way
two long arms
two
short arms
some cases of Down's or Turner's
syndromes.
RING CHROMOSOME
. DUPLICATION OF PART OF A CHROMOSOME
