微阵列比较基因组杂交分析一例足月小样儿的染色体畸变

Chromosome aberration in a full-term neonate with low birth weight using microarray comparative genomic hybridization

目的分析一例足月小样儿的染色体畸变，探讨患儿低出生体重的原因。方法采集临床已确诊的足月小样儿外周血并抽提基因组DNA，进行微阵列比较基因组杂交，分析患儿基因组拷贝数的改变。培养患儿及其父母外周血淋巴细胞，进行染色体核型分析并确定患儿染色体畸变的来源。结果微阵列比较基因组杂交显示患儿在10q25．2→qter区域存在长22Mb片段的重复，同时在15q26．2→qter区域存在长5MD片段的缺失。核型分析显示患儿核型为46，XY，-15，＋der（15）t（10；15）（q2S；q26）pat。结论患儿在10q25．2→qter区域存在部分三体，而在15q26．2→qter区域存在部分单体，这两种染色体畸变可能均是导致患儿表现为足月小样儿的病因之一。

Objective To analyze the chromosome aberration in a full-term male neonate with low birth weight, and to explore the possible causes for growth retardation in intrauterine development for the neonate. Methods Genomic DNA was extracted from peripheral leukocytes of the neonate. Detection of genomic DNA copy number gain and loss was performed using microarray comparative genomic hybridization. Chromosome karyotype was obtained from cultared lymphocytes for the neonate and his parents in order to identify the origin of chromosome aberration. Results Gain of 10q25.2→qler （22 Mb） was observed in the full-teml neonate with low birth weight. In addition, one chromosomal region, 15q26.2→qter （5 Mb） was lost. The karyotype of the neonate was 46,XY, - 15, ＋ der（15）, t（10; 15） （q25;q26）pat. Conclusion The full-tema neonate with low birth weight had a partial trisomy of 10q25.2→qter with a partial monosomy of 15q26.2→qler, both of them may contribute to the growth retardation in intrauterine development for the neonate case.