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Etiology of chromosome abnormality disease
Chromosome is the carrier of genes. When chromosome abnormality occurs, it will lead to abnormal gene expression and abnormal body development, which is the fundamental cause of chromosome disease. Generally, it can be divided into the following situations:
1. Chromosome number aberration, including chromosome number increase, decrease and triploid and polyploid;
2. Chromosome structure aberration occurs, such as chromosome deletion, translocation, inversion, insertion, duplication and ring chromosome.
(1) Autosomal aberrations, such as Down (trisomy 21) syndrome, Patau (trisomy 13) syndrome and Edward (trisomy 18) syndrome;
(2) Sex chromosome aberration, such as Turner syndrome (XO) and congenital testicular hypoplasia.
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