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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