지주막 낭종과 뇌 위축을 동반한 6q 결손 증후군 1례

Deletion of the Long Arm of Chromosome 6 Associated with Arachnoid Cyst and Brain Atropy

저자는 9세로 추정되는 남아에서 안검하열, 단두증과 짧은 목, 작고 낮게 위치한 귀, 양손의 원선과 피문 이상, 짧은 5번째 손가락 중지와 만지증, 가늘고 작은 다리와 편평족, 잠복 고환 그리고 뇌 위축과 함께 심한 정신지체 및 발육 장애를 보인 6p 부분 결손 증후군을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Deletions of 6q chromosome are rare. Although 60 cases of deletions of the long arm of chromosome 6 have been reported in the literature, there was no reported case in Korea. We report a 9 year old boy with a deletion 46,XY,del(6)(q16), who presented growth and developmental delay, brachycephaly, minor facial dysmorphism, low-set ear, short 5th finger with clinodactyly, abnormal palmar creases, cryptorchidism and small feet. Brain MRI showed arachnoid cyst on the temporal lobe with mass effect and dilatation of the lateral ventricle which are consistent with brain atropy. Clinical data were analyzed in comparison with patients reported in the literature.