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

被引：28

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.

引用

页数：5

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