The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
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发表时间：
1999
影响因子：
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通讯作者：
D. McDonald-McGinn;R. Kirschner;E. Goldmuntz;K. Sullivan;P. Eicher;M. Gerdes;E. Moss;C. Solot;Paul P. Wang;I. Jacobs;S. Handler;C. Knightly;K. Heher;Michael D. Wilson;J. Ming;K. Grace;D. Driscoll;P. Pasquariello;P. Randall;D. Larossa;B. Emanuel;E. Zackai
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文献类型：
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作者：
D. McDonald-McGinn;R. Kirschner;E. Goldmuntz;K. Sullivan;P. Eicher;M. Gerdes;E. Moss;C. Solot;Paul P. Wang;I. Jacobs;S. Handler;C. Knightly;K. Heher;Michael D. Wilson;J. Ming;K. Grace;D. Driscoll;P. Pasquariello;P. Randall;D. Larossa;B. Emanuel;E. Zackai
在大多数DiGeorge、velocardiofacial和圆锥动脉干异常面部综合征患者以及一些Opitz G/BBB和Cayler心面综合征患者中发现了染色体22q11.2的亚显微缺失。自1982年以来，我们一直参与DiGeorge综合征和相关诊断的分析，并评估了大量缺失患者。我们描述了我们的队列250例患者的临床研究结果有助于确定与22q11.2缺失相关的极端可变表型，并可能有助于临床医生提供遗传咨询和指导方针的基础上，这些研究结果的临床管理。
A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.