Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay

被引：0
|
作者：
Wallerstein, Violet [1 ]
Grant, Leon [2 ]
Wallerstein, Robert [3 ]
机构：
[1] Drew Univ, Dept Biol, Madison, NJ 07940 USA
[2] Sutter Med Ctr, Pediat Neurol, Sacramento, CA USA
[3] Integrated Genet Inc, Monrovia, CA 91016 USA
来源：
CLINICAL CASE REPORTS | 2022年 / 10卷 / 07期
关键词：
chromosome; 1; developmental delay; genetic testing; isodisomy; uniparental disomy;
D O I：
10.1002/ccr3.5956
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
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页数：3
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