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DOWN SYNDROME - Coggle Diagram
DOWN SYNDROME
IN GENERAL
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bloodtest and ultrasound in first trimester
Amniocentesis (extracting amniotic fluid, really invasive!)
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First thought to be due to hormonal imbalances (thyroid, thymus, and pituirary gland
PHYSICALITIES
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Broad, short hands with a single palm crease
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MAIN TYPES
MOSAIC
During meiosis, a supplementary chromosome on pair 21 is formed due to its delayed non-disjunction.
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TRANSLOCATIONAL
Due to a de novo mutation which, once present, causes 1/3 of children in that family to be born with Down Syndrome.
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supplementary chromosome on pair 21 breaks off and attaches (‘translocates’) to other chromosome pairs such as 14.
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ST21
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During meiosis, a supplementary chromosome on pair 21 is formed due to its non-disjunction.
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BRAIN
Deficit in cortical input due to abnormalities in pyramidal cells (too long or short dendrites of neurons)
Deficits in intrinsic activity due to abnormalities in pyramidal cells (too long or short dendrites of neurons)
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