一例45,XX,-13/46,XX,r(13)/46,XX,r(13;13)/47,XX,2r(13)(p13q32.3)患者及其表型定位研究

目的　通过对 1例 13号环状染色体综合征患者的染色体分析、表型定位研究和相关文献复习比较 ,探索染色体区带与表型的关系。方法　应用染色体G带、C带、N带、高分辨显带技术、表型定位和文献复习比较分析方法 ,对 1例 13号环状染色体综合征患者进行了研究。结果　患儿双亲核型正常 ,患儿核型为 45 ,XX ,-13 /4 6,XX ,r( 13 ) /4 6,XX ,r( 13 ;13 ) /4 7,XX ,2r( 13 ) ( p13q3 2 .3 ) ;典型的 13号环状染色体综合征与 13q3 4的缺失相关 ;13号环状染色体综合征患者的手足、肾脏、骨骼、外生殖器异常及心脏杂音与 13 q3 2 q3 2 .2片段的缺失有关 ,缩颌与 13q3 2 .3 q3 3片段的缺失相关 ,肛门闭锁与 13 q2 2 q3 2的缺失相关 ,无脑畸形与 13 q13 q2 2片段的缺失相关。 结论　新的环状染色体断裂重接点在 13 p13和 13q3 2 .3 ;13号环状染色体综合征患者临床特征的差异与染色体区带缺失部位的不同密切相关。

Chromosome analysis and phenotype location analysis on a patient with the karyotype of 45,XX,-13/46,XX,r(13)/46,XX,r(13;13)/47,XX,2r(13)(p13q32.3)

Objective This study was conducted on a patient with ring-chromosome 13 syndrome and the results were presented and comparatively analyzed with reference to the related literature so as to detect the correlation between chromosome 13 band and the phenotype. Methods In this study the authors used G-banding, C-banding, N-banding, high-resolution banding, phenotype location analysis, and a comparative review of literature. Results It was found that karyotypes of the patient's parents are normal. The patient's karyotype is 45,XX,-13 /46,XX,r(13)/46,XX,r(13;13)/47,XX,2r(13)(p13q32.3). The typical syndrome of ring-chromosome 13 is related to the deletion of 13q34; the deletion of 13q32-13q32.2 is related to hand and foot abnormality, heart murmur, renal defect, skeletal abnormality and external genital abnormality; the deletion of 13q32.3-13q33 is related to micrognathia; 13q22-13q32 is related to atresia, and 13q13-q22 is related to anencephaly. Conclusion It is confirmed that a new breakage-reunion point of ring-chromosome is located at 13p13 and 13q32.3. The variety of clinical characteristics and phenotypes in patients with ring-chromosome 13 syndrome are closely related to the differences of the deletion of chromosome 13.