Wang Ying, Peng Yongzheng, Chen Xiaojiao, Che Xiaoyan
Division of Laboratory Medicine, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong 510282, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Jun;30(3):362-4. doi: 10.3760/cma.j.issn.1003-9406.2013.03.024.
To perform cytogenetic analysis for children, especially newborns suspected for chromosome abnormalities.
Peripheral blood or born marrow specimens were respectively cultured in proper media. Karyograms were analyzed following G-banding.
Of 154 blood specimens, numerical chromosomal abnormalities were identified in 20 patients, which included 19 with trisomy 21. Structural aberrations were identified in 13 patients, among which chromosome 9 aberrations were seen in 6 cases. These included 3 inversions, 1 deletion, 1 insertion and 1 duplication. All aberrations were located in pericentromere region of chromosome 9 with clinical manifestations including congenital heart disease, peculiar facial appearance, paralysis, dysplasia and/or movement disorder. Chromosome polymorphisms were found in 20 patients, most of which had absence of satellites or variation of heterochromatin on chromosome 9. Of 10 bone marrow specimens from children suspected for acute leukemia, chromosome abnormalities were identified in 5 patients.
Cytogenetic analysis is useful for children featuring multiple congenital abnormalities. Chromosome 9 abnormalities and their clinical relevance should attract more attention.
对儿童，尤其是疑似染色体异常的新生儿进行细胞遗传学分析。
分别将外周血或骨髓标本在合适的培养基中培养。采用G显带技术分析核型。
在154份血液标本中，20例患者发现染色体数目异常，其中19例为21三体。13例患者发现结构畸变，其中6例为9号染色体畸变，包括3例倒位、1例缺失、1例插入和1例重复。所有畸变均位于9号染色体的着丝粒周围区域，临床表现包括先天性心脏病、特殊面容、瘫痪、发育异常和/或运动障碍。20例患者发现染色体多态性，其中大多数为9号染色体卫星缺失或异染色质变异。在10例疑似急性白血病儿童的骨髓标本中，5例患者发现染色体异常。
细胞遗传学分析对患有多种先天性异常的儿童有用。9号染色体异常及其临床相关性应引起更多关注。
