논문KCI 등재
Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
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초록
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.
Abstract
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.
참고문헌 (9)
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- Fujimoto A, "Natural history of mosaic trisomy 14 syndrome", Am J Med Genet, 44, pp.189~196 (1992)
- Lynch MF, "Trisomy 14 mosaicism: a case report and review of the literature", J Perinatol, 24, pp.121~123 (2004)
- Von Sneidern E, "Is trisomy 14 mosaic a clinically recognizable syndrome? Case report and review", Am J Med Genet A, 146A, pp.1609~1613 (2008)
- Ginsberg J, "Further observations of ocular pathology in Down’s syndrome", J Pediatr Ophthalmol Strabismus, 17, pp.166~171 (1980)
- Ginsberg J, "Ocular pathology of Trisomy 18", Ann Ophthalmol, 3, pp.273~279 (1971)
- Tunca Y, "Hypomelanosis of ito and a ‘mirror image’ whole chromosome duplication resulting in trisomy 14 mosaicism", Ann Genet, 43, pp.39~43 (2000)
- Kuster W, "Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism", Am J Med Genet, 85, pp.346~350 (1999)
- Howard PJ, "Retinal", macular pigmentation in conjunction with ring 14 chromosome, 1988, pp.80, 140~142
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