What Causes Down Syndrome?

Down syndrome is primarily caused by chromosomal abnormalities, specifically an extra chromosome 21. This is usually due to incomplete cell division during the formation of the fertilized egg from sperm and egg. If a Down syndrome risk is detected during a mid-pregnancy screening, it may be due to the parents’ age, genetic factors, environmental factors (such as smoking, alcoholism, radiation, etc.), or sporadic genetic mutations. The occurrence of Down syndrome is not necessarily related to family history, as it may arise from new genetic mutations.
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What Causes Phenylketonuria?

Phenylketonuria is a congenital amino acid metabolism disorder caused by a deficiency in the enzyme involved in phenylalanine metabolism, leading to the accumulation of phenylalanine and its keto acids, which are then excreted in large amounts in the urine.
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What Does Chromosomal Polymorphism Mean? What Does the N in XN Represent?

Chromosomal polymorphism refers to variations in the structure of human chromosomes, which typically have no significant impact on individuals. The N in XN may indicate an X chromosome abnormality, often used to denote gender or gender-related genetic disorders. In your case, this may suggest a genetic abnormality related to gender. It is recommended that you consult a professional doctor for advice and diagnosis to obtain more detailed answers and appropriate treatment plans.
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