17q重复嵌合体：一名具有埃利斯-范克里维尔德综合征特征的婴儿。
Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
作者信息
Serotkin A, Stamberg J, Waber L
机构信息
Division of Human Genetics, Schneider Children's Hospital, Long Island Jewish Medical Center, New Hyde Park, NY 11042.
出版信息
J Med Genet. 1988 Apr;25(4):258-60. doi: 10.1136/jmg.25.4.258.
Abstract
We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.
摘要
我们描述了一名具有多种畸形特征的婴儿，其因直接串联重复而存在17q21.1至qter重复的嵌合体。他是首例报道的17q重复嵌合体病例。他的特征显著提示埃利斯-范克里维尔德综合征。
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