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Published on: August 20, 2019
[Discovery of analogous balanced translocation syndrome and its clinical genetics research]
Sheng-xiang Cheng1, Li Liu, Han-wen Wu
1Human Reproduction Engineering Research Institute, Xiangya School of Medicine, Central South University, Changsha 410008, China.
Objective:
To find out the clinical genetic law of relation between a group of special chromosomal structural abnormality including bit Y, inv(9), S+, No. 1, 9, 16 chromosomal qh+/-, and the balanced translocation.
Methods:
By means of binomial distribution method, 980 cases were analyzed for balanced chromosome translocation, big Y, inv(9), S+ and qh+/-, and according to the clinical features the 980 cases were divided into 4 groups: spontaneous abortion, abnormal sexual development, labouring disease and disabled or diseased condition of the patient.
Results:
In these 980 cases of balanced translocation, big Y, inv(9), S+ and qh+/-, the chief clinical features caused by the various different conditions have a high similarity (P > 0.20-0.50).
Conclusion:
The big Y, inv(9), S+, and qh+/- leading to the occurrence of the chief clinical features belong to the analogous balanced translocation syndrome. This fact indicates that in the process of sexual reproduction, the minute unequivalent exchange in the molecular level of gamete is possible to have genetic effect in the descendants, and may cause a corresponding clinical feature, present the abnormal sex differentiation, in varying degrees, and influence the abnormal phenotype or the health of individuals.
