Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.

Details

Serval ID
serval:BIB_E2C7896DD812
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.
Journal
Ophthalmic Genetics
Author(s)
Bojinova R.I., Schorderet D.F., Addor M.C., Gaide A.C., Thonney F., Pescia G., Nenadov-Beck M., Balmer A., Munier F.L.
ISSN
1381-6810
Publication state
Published
Issued date
2001
Peer-reviewed
Oui
Volume
22
Number
1
Pages
11-18
Language
english
Abstract
Thirteen years ago, Motegi and colleagues (J Med Genet 1987;24:696-697) summarized the specific facial phenotype of six Japanese retinoblastoma patients with interstitial 13q14 deletions. Among a series of 228 propositi with retinoblastoma referred to the Lausanne Retinoblastoma Clinic for treatment and genetic counseling between 1986 and 1997, 13 (5.7%) were diagnosed with a cytogenetic de-novo 13q14 deletion. We confirm the presence of the reported facial phenotype in our population of Caucasian patients and describe additional clinical traits, thus extending the facial phenotype associated with the 13q14 deletion. Del(13q14) comprises, among others, cranial anomalies, frontal bossing, deeply grooved and long philtrum, depressed and broad nasal bridge, bulbous tip of the nose, thick lower lip, thin upper lip, broad cheeks, and large ears and lobules. Recognition of this particular facial appearance was instrumental in the genetic diagnosis of 13q deletions and in the presymptomatic diagnosis of retinoblastoma in a significant number of our cases. Identification of this phenotype in a retinoblastoma patient allows for efficient diagnosis of recurrence in his progeny and/or sibship, while its ignorance will compromise genetic counseling due to the possible difficulties in detecting large deletions by standard molecular mutation analysis. Recognition of this syndrome in newborns without known familial risk for retinoblastoma is even more important as it is a clear warning sign that indicates immediate ophthalmic examination.
Keywords
Child, Preschool, Chromosomes, Human, Pair 13, Facies, Female, Gene Deletion, Humans, Infant, Male, Phenotype, Retinal Neoplasms, Retinoblastoma, Syndrome
Pubmed
Create date
20/03/2008 9:34
Last modification date
20/08/2019 16:06
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