伴有5p部分重复的明显Opitz BBBG综合征。
Apparent Opitz BBBG syndrome with a partial duplication of 5p.
作者信息
Leichtman L G, Werner A, Bass W T, Smith D, Brothman A R
机构信息
Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23501.
出版信息
Am J Med Genet. 1991 Aug 1;40(2):173-6. doi: 10.1002/ajmg.1320400210.
PMID:1897571
Abstract
We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single gene defect may be located within this duplicated region.
摘要
我们描述了一名患有5号染色体短臂臂间倒位和部分重复的患者。此外，该患者呈现出与Opitz BBBG综合征一致的畸形模式。这意味着导致这种单基因缺陷的基因可能位于这个重复区域内。
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