| Deletion of the Long Arm of Chromosome 6 Associated with Arachnoid Cyst and Brain Atropy. |
|
Kyu Young Chae, Yong Hyun Nam |
1Department of Pediatrics, Seoul Children's Muncipal Hospital, Korea. barnabas@nownuri.net
2Department of Rehabilitation, Seoul Children's Muncipal Hospital, Korea. |
|
|
|
|
| Abstract |
|
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. |
| Key Words:
6q deletion, Developmental delay, Arachnoid cyst, Brain atropy |
|
PDF Links
Full text via DOI
Cited
