14q32.33을 포함한 14번 염색체 장완 결실은 드문 질환이다. 14번 염색체의 말단 결실은 여러 임상증상을 공통적으로 보일 수 있으나 결실 절단부 (breakpoint)에 따라 표현형이 다양하게 발생할 수 있다. 저자들은 경련을 동반한 5세 여아에서 array comparative genomic hybridization (array-CGH)와 fluorescence in situ hybridization (FISH) 방법을 이용하여 이전 보고에 비해 가장 작은 14q32.33부위의 0.33 Mb 크기의 말단 결실과 심하지 않은 표현형을 보이는 1례를 경험 하였기에 문헌고찰과 함께 보고하는 바이다.
Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.
