Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.
Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations.
复制标题
两个 22q11 缺失综合征大家庭的遗传分析：心外表现的重要性。
DOI：
10.1016/j.jpeds.2004.10.038
复制
发表时间：
2005
期刊：
影响因子：
--
通讯作者：
Benson,DWoodrow
中科院分区：
文献类型：
--
作者：
Shooner,KerryA;Rope,AlanF;Hopkin,RobertJ;Andelfinger,GregorU;Benson,DWoodrow
心血管畸形（CVMs）在缺失22q11.2（del22q11）综合征患者中很常见（约75%）。为了更好地理解缺失未被识别的原因，我们在两个大家族中对缺失个体的表型进行了表征，特别强调了CVM的存在或不存在。研究结果在两个不相关的CVM先证者中诊断出del22q11后，我们对家族成员进行了临床评估和细胞遗传学分析。所有表现出特征性畸形的面部特征，但在13个个体中只有6个（46%）个体存在CVM。CONCLUSIONSWe推测，在没有CVM的情况下，del22q11的诊断受到未能识别del22q11综合征谱的心外特征的阻碍。这些数据强调了初级保健医生和专家需要熟悉del22q11的心外圣痕，以确保所有家庭成员的及时诊断。
OBJECTIVESCardiovascular malformations (CVMs) are reported to be common (∼75%) in patients with deletion 22q11.2 (del22q11) syndrome. To better understand why deletions go unrecognized, we characterized the phenotype in deleted individuals in two large kindreds with particular emphasis on the presence or absence of CVM.STUDY DESIGNAfter the diagnosis of del22q11 in two unrelated probands with CVM, we sequentially evaluated family members with clinical evaluation and cytogenetic analysis.RESULTSDel22q11 was identified in 13 individuals; all exhibited characteristic dysmorphic facial features, but a CVM was present in only 6 of 13 (46%) individuals.CONCLUSIONSWe speculate that in the absence of CVM, diagnosis of del22q11 is hampered by a failure to recognize extracardiac features of the del22q11 syndrome spectrum. The data highlight the need for primary care physicians and specialists to familiarize themselves with the extracardiac stigmata of del22q11 to ensure timely diagnosis in all family members.