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Autosomal aberrations associated with testicular dysgenesis or spermatogenic arrest in Chinese patients
Jin-Hu Guo1, Pei-Yuan Zhu, Yu-Feng Huang
1School of Life Sciences, Institute of Genetics, Fudan University, Shanghai, China.
Aim:
To analyze the relationship between autosomal aberrations and testicular dysgenesis or spermatogenic arrest in Chinese patients and to map the corresponding regions on each autosome in regard to the recorded aberrations accompanying these distubances.
Methods:
One hundred and nineteen cases of aberrant karyotypes with testicular dysgenesis, azoospermia or oligozoospermia reported in five Chinese journals and one monograph were analyzed. For each autosome, the type and frequency of chromosomal aberrations were counted and the regions corresponding to the disturbances were mapped out.
Results:
Chromosomes 13, 14, 9, 21 exhibited a high frequency of aberration and bands 14q11 and 13p11 were the two regions showing the highest linkage to testicular dysgenesis or infertility. The frequency of chromosomal aberrations was higher in bands 9p11 and 22q than in others.
Conclusion:
Autosomes 13, 14, 9 and 21 in the order of importance play a critical role in testicular development and spermatogenesis and other autosomes may also contribute; the following regions, 14q11, 13p11,9p11, and 22q, are of high significance.