22q11.2欠失症候群における欠失範囲の検索

概要

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Conotruncal anomaly face syndrome (CAFS), DiGeorge syndrome (DGS), and velo-cardio-facial syndrome have similar but varying phenotypic spectra, i.e., cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia, and share deletion of 22q11.2 as a common feature. The aim of this study was to investigate the difference in size of the deletion of the 22q11.2 region between CAFS and DGS. Fifty probands (30 CAFS probands and 20 DGS probands), with a type A1 (3 Mb) deletion were examined by fluorescent in situ hybridization (FISH) using 4 probes of the 22q11.2 region. In this study, we showed that CAFS and DGS which have the type A1 (3 Mb) deletion have the same deletion size and the chromosome breakpoints of CAFS and DGS occurred within two complex repeats, LCR22-2 and LCR22-4, that are 3 Mb apart and that the deletions arose from unequal meiotic recombination events. It is important to determine whether the chromosome breakpoints occur in clustered regions or at random sites of sequence homology, since elucidation of the mechanism in which the deletion generated is necessary.
東京女子医科大学の論文
2002-04-25