摘要: Identifying the genes that underlie pathogenesis of chromosome deletion and duplication syndromes is a challenge because affected chromosomal segment can contain many genes. The identification are relevant to these disorders often requires analysis individuals carry rare, small deletions, translocations or single-gene mutations. Research into 22 (del22q11) syndrome, which encompasses DiGeorge velocardiofacial has taken different path in recent years, using mouse models circumvent paucity informative human material. These have provided new insights del22q11 syndrome established strategies for research chromosomal-deletion -duplication syndromes.
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