对两个22q11缺失综合征家族遗传分析:心外表征的重要性
Genetic analyses in two extended families with deletion 22q11 syndrome: Importance of extracardiac manifestations作者机构：Cardiology ML 70 42 Children's Hospital Medical Center 3333 Burnet Ave Cincinnati OH 45229 - 3039 United States Dr.
出 版 物：《世界核心医学期刊文摘（儿科学分册）》 (Dkgest of the World Latest Medical Information)
年 卷 期：2005年第1卷第8期
页 面：26-27页
学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学]
主 题：家族遗传 q11 染色体缺失 遗传学分析 先证者 表型特征 接诊医师 心血管畸形 同质异形 临床评估
摘 要：Objectives: Cardiovascular malformations (CVMs) are reported to be common (～ 75% ) in patients with deletion 22q11.2 (del22q11) syndrome. To better underst and why deletions go unrecognized, we characterized the phenotype in deleted ind ividuals in two large kindreds with particular emphasis on the presence or absen ce of CVM. Study design: After the diagnosis of del22q11 in two unrelated proban ds with CVM, we sequentially evaluated family members with clinical evaluation a nd cytogenetic analysis. Results: Del22q11 was identified in 13 individuals; all exhibited characteristic dysmorphic facial features, but a CVM was present in o nly 6 of 13 (46% ) individuals. Conclusions: We speculate that in the absence o f CVM, diagnosis of del22q11 is hampered by a failure to recognize extracardiac features of the del22q11 syndrome spectrum. The data highlight the need for prim ary care physicians and specialists to familiarize themselves with the extracard iac stigmata of del22q11 to ensure timely diagnosis in all family members.
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