努南综合征：一名携带PTPN11基因突变女性的产前诊断
Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation.
作者信息
González-Huerta Norma Celia, Valdés-Miranda Juan Manuel, Pérez-Cabrera Adrián, Pacheco-Cuellar Guillermo, González-Huerta Luz Maria, Cuevas-Covarrubias Sergio Alberto
机构信息
Servicio de Genética, Instituto Nacional de Rehabilitación, Hospital General de México, Facultadde Medicina, Universidad Nacional Autónoma de México, México DF, México.
出版信息
J Matern Fetal Neonatal Med. 2010 Jul;23(7):688-91. doi: 10.3109/14767050903440455.
OBJECTIVE
To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene.
STUDY DESIGN
Case report.
RESULTS
We detected in a pregnant woman and her child the G<A transition at position 236 in exon 3 of the PTPN11 gene causative of NS. Antenatal diagnosis was possible through ultrasonography in the 24th week of gestation.
CONCLUSIONS
Ultrasonography 3D is useful in the antenatal diagnosis of major congenital anomalies. Molecular studies should also be included to confirm the specific diagnosis.
目的
描述一例通过三维超声检查和PTPN11基因分子分析确诊的患有努南综合征（NS）的孕妇及其胎儿的病例。
研究设计
病例报告。
结果
我们在一名孕妇及其胎儿中检测到PTPN11基因第3外显子236位的G<A转换，这是导致努南综合征的原因。在妊娠第24周时通过超声检查进行了产前诊断。
结论
三维超声检查有助于产前诊断主要先天性异常。还应进行分子研究以确诊。
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