Department of Genetics, Wrocław Medical University, Marcinkowskiego 1, 50-368 Wrocław, Poland.
J Appl Genet. 2010;51(1):111-3. doi: 10.1007/BF03195718.
We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1).
我们呈现了一例女性婴儿的临床病例，该婴儿存在多种异常和独特的面部特征，伴有极为严重的先天性巨结肠病临床病程。该女孩还被诊断患有 Mowat-Wilson 综合征，通过分子分析证实为 ZEB2 基因的杂合性缺失。此外，分子核型分析显示还存在涉及其他基因（KYNU、ARHGAP15 和 GTDC1）的缺失。
