A 2q13 microdeletion is a rare genetic condition caused by a small piece of missing genetic material from one of the body’s chromosomes - chromosome 2. Deletions can vary in size but …

2021年6月17日 · The clinical and genomic findings observed are consistent with the diagnosis of 2q13 microdeletion syndrome. This new neonatal case report provides additional genotypic …

2015年7月31日 · Our findings support that the 2q13 deletion is associated with a developmental delay syndrome manifesting with variable expressivity and reduced penetrance which poses a …

2021年10月4日 · 2q13 Microdeletion Syndrome is caused by a deletion of genetic material in the long arm (q) of chromosome 2. The deletion typically occurs in one of the 2 copies of …

What is a 2q13 microdeletion? 2q13 microdeletion is a rare genetic condition caused by a small piece of missing genetic material from one of the body’s chromosomes - chromosome 2. is a …

Distal 2q13 microdeletion is linked to cognitive impairment risk and should be reported in test results based on parental preferences, requiring special considerations for clinical …

2024年11月25日 · The distal 2q13 microdeletion represents a recurrent CNV with a broad phenotypic spectrum. This study examines the clinical characteristics of 25 individuals from 17 …

Hereby, we describe an ad-ditional newborn with craniofacial dysmorphisms, congenital heart disease, hypotonia, and a 2q13 deletion of 1.7 Mb. The clinical and genomic findings observed …

In this paper we describe an additional newborn patient with craniofacial dysmorphisms, congenital heart disease, hypotonia and a 2q13 deletion of 1.7 Mb, whose clinical and …

2022年1月1日 · The recurrent 2q13 deletion syndrome is a rare genetic disorder associated with developmental delay, cardiac and urogenital malformations, and minor facial anomalies. …