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Question -

Mention any two autosomal genetic disorders with their symptoms.



Answer -

These disorders are caused as a result of a defect in the gene found on the autosomes. Some autosomal genetic disorders are – Down’s syndrome, sickle cell anemia, Patau syndrome, Phenylketonuria.
Down’s syndrome
Symptoms:
Flat hands, short neck
Broad forehead
Partially open mouth, furrowed tongue
Mongolian type eyelid fold and stubby fingers
Stunted psychomotor, physical and mental development
Heart deformities and deformity of other organs
Underdeveloped genitalia and gonads
Sickle cell anemia
Symptoms:
Shape of RBCs change from elongated to sickle-shaped(curved) under the influence of low oxygen tension
These sickle-shaped RBCs are more rapidly destructed than the normal ones causing anaemia

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