Titre
Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Bojinova, R.I.
Auteure/Auteur
Schorderet, D.F.
Auteure/Auteur
Addor, M.C.
Auteure/Auteur
Gaide, A.C.
Auteure/Auteur
Thonney, F.
Auteure/Auteur
Pescia, G.
Auteure/Auteur
Nenadov-Beck, M.
Auteure/Auteur
Balmer, A.
Auteure/Auteur
Munier, F.L.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1381-6810
Statut éditorial
Publié
Date de publication
2001
Volume
22
Numéro
1
Première page
11
Dernière page/numéro d’article
18
Peer-reviewed
Oui
Langue
anglais
Résumé
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.
PID Serval
serval:BIB_E2C7896DD812
PMID
Date de création
2008-03-20T08:34:19.165Z
Date de création dans IRIS
2025-05-21T05:16:22Z