伴有不寻常心脏和肺部异常的10号染色体长臂远端三体综合征
Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
作者信息
Davies J, Jaffé A, Bush A
机构信息
Department of Respiratory Paediatrics, Royal Brompton Hospital, London, UK.
出版信息
J Med Genet. 1998 Jan;35(1):72-4. doi: 10.1136/jmg.35.1.72.
Abstract
Since its description in 1965, distal 10q trisomy has become recognised as a well defined, although rare syndrome, almost always the result of an unbalanced translocation. Typical features consist of psychomotor delay, a distinctive dysmorphic appearance, growth retardation, and, in some cases, cardiac, renal, and ocular abnormalities.
摘要
自1965年首次描述以来，10号染色体长臂末端三体综合征已被公认为一种明确的、尽管罕见的综合征，几乎总是由不平衡易位导致。典型特征包括精神运动发育迟缓、独特的畸形外观、生长发育迟缓，以及在某些情况下的心脏、肾脏和眼部异常。
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