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目的确诊1例女性性反转伴多发畸形患儿的染色体拷贝数变异的性质及来源,分析其染色体变异与表型的相关性。方法首先应用常规G显带分析该例患儿外周血染色体改变,然后应用一种基于高通量全基因组测序的新型染色体畸变检测方法对该例常规核型分析的结果进行精确定位。结果该女性患儿常规核型分析为46,XY,性反转。高通量全基因组测序结果验证了性反转,还发现了Xp22.31 p11.4重复,重复片断大小为29.90Mb。临床表现为智力低下,特殊面容,同时伴有运动发育落后、先天性心脏病及癫痫发作等,外生殖器为女性外观。结论女性46,XY性反转伴有X染色体短臂末端重复可导致患儿出现多发畸形;与传统的细胞遗传学分析方法相比,基于高通量全基因组测序的新型染色体畸变检测方法在染色体异常分析中具有更高的分辨率和准确性。
Objective To determine the nature and origin of chromosomal copy number variation in 1 female sex reversal with multiple malformations and to analyze the association between chromosomal aberrations and phenotypes. Methods Chromosome changes in peripheral blood were analyzed by conventional G-banding. Then, a novel chromosomal aberration detection method based on high-throughput whole genome sequencing was applied to accurately locate the results of conventional karyotyping. Results The routine karyotypic analysis of the female child was 46, XY, reversal. High-throughput whole genome sequencing confirmed the sexual inversion, also found Xp22.31 p11.4 repeats, repeated fragment size of 29.90Mb. Clinical manifestations of mental retardation, special face, accompanied by motor development, congenital heart disease and seizures, etc., external genitalia for the female appearance. CONCLUSIONS: Female 46, XY inversion accompanied by short arm repeat of X chromosome can lead to multiple deformities in children. Compared with the traditional methods of cytogenetic analysis, a new method of chromosome aberration detection based on high-throughput whole genome sequencing is found in chromosomes Abnormal analysis with higher resolution and accuracy.