PDF(Pubmed)
Abstract：
Wolf-Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion\' size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)-combined kits-as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis-CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.
摘要：
Wolf-Hirschhorn综合征(WHS),一种由远端4p缺失确定的罕见疾病，其特征是出生前和出生后的生长迟缓，低张力,智力残疾,癫痫,颅面畸形,和先天性融合异常。临床方面取决于删除的大小。我们的目的是在7例4p缺失病例的队列中确定罕见的特定特征，并评估多重连接依赖性探针扩增（MLPA）（廉价且灵敏的测试）组合试剂盒作为诊断测试和选择工具的实用性需要其他调查（染色体微阵列分析-CMA，核型）。对于所有病例，我们都进行了临床检查，确定了主要特征：面部畸形，智力残疾,产后发育延迟，心脏缺陷和低张力。在某些情况下,我们观察到癫痫发作,大脑结构异常,免疫缺陷,和肾脏异常.在相对较少的病例中发现了产前生长迟缓，但是出生后生长障碍是一个持续的特征。在所有情况下,临床诊断通过基因分析得到证实:核型和/或MLPA.总之,肾和脑缺陷,以及免疫缺陷是罕见的表现，应该寻找。虽然CMA是标准测试，根据我们的经验,MLPA也是一种可靠的筛查方法，因为已确定的病例要么由MLPA确认，要么选择进行进一步调查。
