6号染色体长臂部分三体与双侧视网膜脱离。
Partial trisomy 6q and bilateral retinal detachment.
作者信息
Pierpont M E, MacCarthy K G, Knobloch W H
出版信息
Ophthalmic Paediatr Genet. 1986 Dec;7(3):175-80. doi: 10.3109/13816818609004135.
PMID:3561952
Abstract
An eight-year-old boy with trisomy 6q13----q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, joint contractures and bilateral retinal detachment. To the authors' knowledge, this is the first case in which such an association has been recorded.
摘要
一名患有6q13----q21三体综合征的8岁男孩，表现出生长发育迟缓、严重智力障碍、特殊面容、腭裂、关节挛缩和双侧视网膜脱离。据作者所知，这是首次记录到的此类关联病例。
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