Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. |
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| Authors: | H Fujita J Meng M Kawamura N Tozuka F Ishii N Tanaka |
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| Affiliation: | Department of Human Development and Welfare, Faculty of the Science of Living, Osaka City University, Japan. |
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| Abstract: | We report on a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further "contiguous gene syndrome." |
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