Chromosome 13q deletion with Cornelia de Lange syndrome phenotype.
| Autor: | Ngo CT; The Opthalmology Unit, Universiti Malaysia Sarawak, (UNIMAS), Lot 77, Seksyen 22, Kuching Town Land District, Jalan Tun Ahmad Zaidi Adruce, 93150 Kuching, Sarawak., Alhady M, Tan AK, Norlasiah IS, Ong GB, Chua CN |
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| Jazyk: | angličtina |
| Zdroj: | The Medical journal of Malaysia [Med J Malaysia] 2007 Mar; Vol. 62 (1), pp. 74-5. |
| Abstrakt: | A 3-year-old girl with facial dysmorphic features suggestive of Cornelia de Lange syndrome was seen in the ophthalmology unit for a right leukocoria. The leukocoria was found to be caused by a large retinoblastoma and the right eye was enucleated. Chromosomal analysis revealed partial chromosome 13q deletion involving band 14 which is associated with a high risk of retinoblastoma. This case shows that patient with chromosome 13q deletion syndrome cannot be diagnosed based on dysmorphic features only. Chromosomal analysis is warranted in all infants with facial dysmorphism suggestive of Cornelia de Lange syndrome so that those with chromosome 13q deletion can be referred early for early detection of retinoblastoma. |
| Databáze: | MEDLINE |
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