一名患有孤立性发育迟缓儿童的1号染色体完全单亲二体性。
Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.
作者信息
Wallerstein Violet, Grant Leon, Wallerstein Robert
机构信息
Department of Biology Drew University Madison New Jersey USA.
Pediatric Neurology, Sutter Medical Center Sacramento California USA.
出版信息
Clin Case Rep. 2022 Jul 22;10(7):e5956. doi: 10.1002/ccr3.5956. eCollection 2022 Jul.
Abstract
Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.
摘要
1号染色体单亲二体完全性（UPD1）是一种罕见的基因发现，其特定表型尚未确定。我们报告了一名患有父源UPD1完全性且伴有孤立性发育迟缓的男孩，并表明UPD1不存在明确的表型。
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本文引用的文献
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