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Case Report

A Case of Short Arm Deletion and Long Arm Duplication at Chromosome 3

Seung Hyun Kong, Jeong Il Seo, Jang Hui Kang, So Young Jung, Ji Sun Mok

Clin Exp Pediatr. 2005;48(12):1389-1393. Published online December 15, 2005

The long arm duplication of chromosome 3 was reported for the first time in 1966 by Falek et al., and Hirschhorn et al. came to identify the duplication of 3q21 qter region in 1973. In most cases of duplication 3q syndrome patients, pure duplication of 3qter is believed to be rare and is often reported accompanied with deletion of another...

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