[帕利斯特-基利安综合征一例的产前诊断]
[Prenatal diagnosis of a case of Pallister-Killian syndrome].
作者信息
Song Xiao, Wang Xueyan, Deng Guangming, Xi Na, Zeng Lan, Chen Chun, Sun Lingling, Qin Shengfang, Ren Yinghui
机构信息
Department of Medical Genetics and Prenatal Diagnosis, Women and Children's Health Care Hospital of Sichuan Province, Chengdu, Sichuan 610000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):771-773. doi: 10.3760/cma.j.issn.1003-9406.2020.07.017.
OBJECTIVE
To carry out G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA) for a fetus featuring multiple malformations.
METHODS
The fetus was found to have increased nuchal thickness, generalized edema, asymmetric lower limbs, tetralogy of Fallot, nasal bone anomaly and cleft palate. Following amniocentesis, G-band karyotyping and CMA were carried out.
RESULTS
The fetus had a karyotype of 47,XX,+i(12)(p10) [14]/46,XX[6]. CMA has identified a 33.9 Mb duplication at 12p13.33-p11.1, which was suggestive of tetrasomy 12p.
CONCLUSION
Combined chromosomal karyotyping and CMA can delineate the origin of abnormal chromosomal fragments during prenatal diagnosis. The fetus was diagnosed with Pallister-Killian syndrome.
目的
对一名患有多种畸形的胎儿进行G带染色体核型分析和染色体微阵列分析（CMA）。
方法
发现该胎儿存在颈部透明带增厚、全身水肿、下肢不对称、法洛四联症、鼻骨异常和腭裂。羊水穿刺后，进行了G带核型分析和CMA。
结果
胎儿的核型为47,XX,+i(12)(p10) [14]/46,XX[6]。CMA在12p13.33-p11.1区域鉴定出一个33.9 Mb的重复，提示12p四体。
结论
联合染色体核型分析和CMA可在产前诊断中明确异常染色体片段的来源。该胎儿被诊断为帕利斯特-基利安综合征。
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