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For the last 10 years our knowledge
in medical genetics has revolutionized out understanding of disease.
We know now that certain conditions are definitely inherited
and we can identify their inheritance better. This is very important
for counseling and for patient management.

Above you can see the normal
chromosomes in a female patient. By looking at chromosomes doctors
can dertermine if there are extra numbers, less numbers, deletions
or additions to those chromosomes.
For example, sometimes at chromosome
21 (Down Syndrome) you'll find an extra 21 chromosome. Of course,
this is a very important condition because chromosome 21 is associated
with some significant heart defects, specifically Atrial Septal
Defect (AV Canal). |