| Autor: |
Bojinova, Rossiana I., Schorderet, Daniel F., Addor, Marie-Claude, Gaide, Anne-Claude, Thonney, Francine, Pescia, Graziano, Nenadov-Beck, Maja, Balmer, Aubin, Munier, Francis L. |
| Předmět: |
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| Zdroj: |
Ophthalmic Genetics; Mar2001, Vol. 22 Issue 1, p11, 8p, 4 Black and White Photographs, 3 Charts |
| Abstrakt: |
Thirteen years ago, Motegi and colleagues (J MedGenet 1987;24:696-697) summarized the specific facial phenotype of sixJapanese retinoblastoma patients with interstitial 13q14 deletions. Amonga series of 228 propositi with retinoblastoma referred to the Lausanne RetinoblastomaClinic for treatment and genetic counseling between 1986 and 1997, 13 (5.7%)were diagnosed with a cytogenetic de-novo 13q14 deletion. We confirm the presenceof the reported facial phenotype in our population of Caucasian patients anddescribe additional clinical traits, thus extending the facial phenotype associated withthe 13q14 deletion. Del(13q14) comprises, among others, cranial anomalies,frontal bossing, deeply grooved and long philtrum, depressed and broad nasalbridge, bulbous tip of the nose, thick lower lip, thin upper lip, broad cheeks,and large ears and lobules. Recognition of this particular facial appearancewas instrumental in the genetic diagnosis of 13q deletions and in the presymptomaticdiagnosis of retinoblastoma in a significant number of our cases. Identificationof this phenotype in a retinoblastoma patient allows for efficient diagnosisof recurrence in his progeny and/or sibship, while its ignorance will compromisegenetic counseling due to the possible difficulties in detecting large deletionsby standard molecular mutation analysis. Recognition of this syndrome innewborns without known familial risk for retinoblastoma is even more importantas it is a clear warning sign that indicates immediate ophthalmic examination. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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