目的 通过对以生长发育迟缓为主要表现的Wolf-Hirschhorn综合征(WHS)进行文献复习及病例分析,研究其现状及进展,以期为临床诊断及治疗提供依据。方法 以儿保科门诊确诊的1例以生长发育迟缓为表现的WHS患儿为例,从遗传方式、临床表型与基因型的关系、诊断技术等方面对WHS进行探讨。结果 WHS的发生与多个基因相关, 单个基因的突变无法准确地解释病因,其临床表型复杂,体格及智力发育落后是常见的临床表现之一。 染色体微阵列分析(CMA)技术是目前诊断此病的首选检测方法。结论 临床医生需通过详细询问病史及体格检查发现疾病临床特点,运用恰当的细胞遗传学检测技术,对WHS的发病机制及遗传特点进行深入研究,为临床治疗及预后提供依据。
Abstract
Objective To make literature review and case analysis on the current status and progress of Wolf-Hirschhorn syndrome(WHS), in order to provide the basis for clinical diagnosis and treatment. Methods A case of a child diagnosed with WHS in Children Healthcare outpatientand with main manifestation of growth retardation was used. The WHS was discussed in terms of genetic patterns, clinical phenotype and genotype, diagnostic techniques and so on. Results The occurrence of WHS was associated with multiple genes. The loss of a single gene can not accurately explain the cause of the disease. Its clinical phenotype was complex, physical and mental retardation was one of the common clinical manifestations. Chromosomal microarray analysis (CMA) technique was the first choice for the diagnosis of this disease. Conclusion Clinicians need to find out the clinical features of disease through detailed disease history and physical examination, and to use cytogenetic detection technology appropriately to study the pathogenesis and genetic characteristics of WHS in order to provide basis for clinical treatment and prognosis.
关键词
Wolf-Hirschhorn综合征 /
临床表现 /
遗传特点 /
基因诊断 /
预后
Key words
Wolf-Hirschhorn syndrome /
clinical manifestations /
genetic characteristics /
gene diagnosis /
prognosis
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
[1] Zollino M,Lecce R,Fischeuo R,et al.Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accented WHS critical region and defining a new critical region,WHSCR-2 [J].Am J Hum Genet,2003,72(3):590-597.
[2] 佟彤.Wolf-Hirschhorn综合征研究进展[J].中国优生与遗传杂志.2011,19(4):119-120.
[3] 朱海燕,吴星.双胎之一Wolf-Hirschhorn综合征一例[J].中华医学遗传学杂志.2008,25(2):62-63.
[4] 赵丽娟.Wolf-Hirschhorn综合征一例[J].中华医学遗传学杂志.2012,29(4):496-497.
[5] 李一帆,邱文娟,叶军,等.66例精神发育迟滞／发育迟缓患儿基因组拷贝数变异的染色体芯片分析[J].中华医学遗传学杂志.2014,31(6):703-707.
[6] 章卫国,张蔚卿,刘佳媚,等.体外受精与胚胎移植胎儿Wolf-Hirschhorn综合征一例[J].中华医学遗传学杂志.2016,33(5):745-746.
[7] Zollino M,Murdolo M, Marangi G,et al. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review[J]. Am J Med Genet C Semin Medi Gene,2008,148C(4):257-269.
[8] Catarina C,Daniel BC,Esfir S,et al. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice[J]. Dis Model Mech,2009,2(5-6): 283-294.
[9] Bergemann AD ,Cole F,Hirschhom K.The etiology of Wolf-Hirschhorn syndrome[J].Trends Genet,2005,21(3):188-295.
[10] VanBuggenhout G,Melotte C,Dutta B,et a1.Mild Wolf-Hirschhorn syndrome:micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map[J].J Med Genet,2004,41(9):691-698.
[11] Okanloto N,Ohmachi K,Shimada S,et a1.109kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome[J].Am J Med Genet A,2013,16lA(6):1465-1469.
[12] Ferrara P,DelBufalo F,Nicoletti A,et a1.Wolf-Hirschhorn syndrome with improvement of renal function[J].Am J Med Genet A,2010,152A(5):1283-1284.
[13] Miller DT, Adam MP,Aradhya S,et a1.Consensus statement:chromosoma1 microarray is a first-tier clinical diagnostic test for individuals with developmenta1 disabilities or congenita1 anomalies[J].Am J Hum Genet,2010,86(5):749-764.
[14] 崔英霞,夏欣一. 染色体微阵列分析是发育迟缓和先天畸形患者的首选检测——浅谈对“国际标准细胞基因组微阵列协会陈述”的理解[J]. 临床检验杂志,2011,29(7):551-552,554.
[15] 郭丽格,刘亚萍.Wolf-Hirschhorn综合征1例报告[J].中国儿童保健杂志.2017,25(1):107-108.
PDF(1266 KB)
