Chromosomal Deletion/Duplication Syndromes
What is it?
Chromosome duplication/deficiency syndromes include a wide range of chromosomal and structural abnormalities characterized by partial loss or acquisition of a chromosomal region.
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Causes and risk factors
They may be due to imbalances in reciprocal translocations carried by a parent or be sporadic (de novo) abnormalities.
Which are the symptoms?
Variable depending on the specific chromosomal abnormality.
How is it treated?
There is no specific therapy for this syndrome, but we rely on therapies for individual symptoms.
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Book your appointment or your exam
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Do you need a personalized treatment plan?
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