2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype

被引：29
作者：
Piro, Ettore [1 ]
Serra, Gregorio [1 ]
Giuffre, Mario [1 ]
Schierz, Ingrid Anne Mandy [1 ]
Corsello, Giovanni [1 ]
机构：
[1] Univ Palermo, Dept Hlth Promot Mother & Child Care, Internal Med & Med Specialties G D Alessandro, Palermo, Italy
来源：
CLINICAL CASE REPORTS | 2021年 / 9卷 / 06期
关键词：
chromosome; 2; CNVs; follow-up; genotype-phenotype correlations; newborn; DUPLICATIONS;
D O I：
10.1002/ccr3.4289
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome.
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