Objective: To investigate the main clinical characteristics and genetic analysis of rare chromosome aberration in peripheral blood.
Methods: Peripheral blood cells were cultured for 72 hours with routine method and slids performed, and then the slide was read and mode analysis was carried out. The diagnostic standard of rare chromosomal aberation was: 1-2 abnormal kary types were found in every 30, 60, 200 mitotic phass.
Results: The main clinical characteristics of 52 cases of individual chromosomal aberation in peripheral blood included: 1. spontaneous abortion; 2. abnormal sex development; 3. reproduction diseases; and 4. morbid and deformity.
Conclusion: Rare chromosomal aberation should be regarded as chromosomal diseases. Prenatal diagnosis is necessary for people with such chromosomal aberation in their reproductive actions.
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