[一名因18号染色体短臂缺失导致多种畸形患儿的表型与基因分析]
[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].
作者信息
Pan Qiong, Hu Ping, Ou Jihua, Jin Xin, Zhang Fengting, Hu Yue, Cheng Longfei, Han Liangrong, Ning Ying
机构信息
Laboratory of Clinical Genetics, Department of Radiology, Department of Neonatology, Huaian Maternal and Child Health Care Hospital, Huaian, Jiangsu 223002, P.R. China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Oct;32(5):695-9. doi: 10.3760/cma.j.issn.1003-9406.2015.05.019.
OBJECTIVE To analyze a neonate with multiple malformations and to correlate its genotype with phenotype. METHODS The karotypes of the child and her parents were subjected to G-banding chromosome analysis, and array comparative genomic hybridization (array-CGH) was used for fine mapping of the aberrant region. RESULTS The karyotype of the child was ascertained as 46,XX,del(18)(p11.2). Array CGH has identified a 9.8 Mb deletion at 18p11.32-p11.22. The patient has presented features such as holoprosencephaly, choanal atresia, heart defect, and craniofacial dysmorphisms. CONCLUSION The de novo 18p deletion probably underlies the main clinical manifestations of the child.
目的 分析一名患有多种畸形的新生儿，并将其基因型与表型相关联。方法 对患儿及其父母的染色体进行G显带分析，并采用阵列比较基因组杂交（array-CGH）对异常区域进行精细定位。结果 患儿的核型确定为46,XX,del(18)(p11.2)。阵列CGH检测到18p11.32-p11.22区域存在9.8 Mb的缺失。该患者表现出全前脑畸形、后鼻孔闭锁、心脏缺陷和颅面部畸形等特征。结论 新发的18p缺失可能是患儿主要临床表现的基础。
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