J Korean Child Neurol Soc.
1999 Oct;7(1):119-123.
A Case of 9p Tetrasomy Associated with Hydrocephalus due to Hypertrophy of Choroid Plexus
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Pusan National University.
Abstract
- 9p Tetrasomy is rare chromosomal aberration that was described in approximately 30 previous patients in the world and this is the first described in Korea. Here we report a 3 month-old boy who was referred for genetic evaluation because of facial dysmorphism, such as wide fontanells, hypertelorism, bulbous nose, low set ears, cleft lip and palate. He had also psychomotor retardation and hypotonia. He was diagnosed as tetrasomy 9p syndrome by clinical feature and chromosomal study. Thereafter, increased growing of head size compared with body weight and height was observed and brain MRI shows hydrocephaly associated with remarkable hypertrophy of choroid plexus and mild Dandy Walker syndrome.
