因母源7号染色体部分等二体导致的囊性纤维化和Silver-Russell综合征。
Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.
作者信息
Gerbrands Lonneke C, Haarman Eric G, Hankel Margot A, Finken Martijn J J
机构信息
Department of Pediatrics VU University Medical Center Amsterdam The Netherlands.
Department of Clinical Genetics VU University Medical Center Amsterdam The Netherlands.
出版信息
Clin Case Rep. 2017 Sep 8;5(10):1697-1700. doi: 10.1002/ccr3.1061. eCollection 2017 Oct.
Abstract
If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver-Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small-for-gestational-age birth.
摘要
如果患有囊性纤维化的婴儿尽管疾病管理得当但仍出现生长发育迟缓，鉴于这些病症在基因组中的位置，应考虑Silver-Russell综合征。然而，诊断的一个较早线索是小于胎龄儿出生。
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