13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins.

Détails

ID Serval
serval:BIB_40FD742C0DA6
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
13q deletion syndrome and retinoblastoma in identical dichorionic diamniotic monozygotic twins.
Périodique
European Journal of Ophthalmology
Auteur(s)
De Francesco S., Galluzzi P., Del Longo A., Piozzi E., Renieri A., Menicacci C., Mari F., Munier F., Hadjistilianou T., Mastrangelo D.
ISSN
1724-6016 (Electronic)
ISSN-L
1120-6721
Statut éditorial
Publié
Date de publication
2012
Peer-reviewed
Oui
Volume
22
Numéro
5
Pages
857-860
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
PURPOSE: To report the case of identical dichorionic diamniotic female twins with unilateral retinoblastoma in 13q deletion syndrome.
METHODS: Clinical and ophthalmoscopic evaluation, combination of multiple ligation-dependent probe amplification, array-comparative genomic hybridization analyses, and magnetic resonance imaging were performed.
RESULTS: Peculiar facial features, marked hypotonia, gastroesophageal reflux, interatrial septal defect with left to right shunt and light dilatation of right chambers, 5th finger hypoplasia, 3rd-5th toes clinodactyly, 2nd toe overlapped to 3rd toe, and cutis marmorata were found. Ophthalmoscopic evaluation revealed unilateral retinoblastoma in both girls. Magnetic resonance imaging detected corpus callosum hypoplasia in both twins. A 34.4-Mb deletion involving bands 13q13.2-q21.33 and including the RB1 gene was identified in both twins. The deletion was not present in the DNA of their parents and older brother.
CONCLUSIONS: Dysmorphic features in children must be always suspicious of 13q deletion syndrome and a short ophthalmoscopic follow-up is necessary to detect the presence of a retinoblastoma.
Mots-clé
Abnormalities, Multiple/genetics, Agenesis of Corpus Callosum/genetics, Chromosome Deletion, Chromosome Disorders/genetics, Chromosomes, Human, Pair 13/genetics, Comparative Genomic Hybridization, Diseases in Twins/genetics, Female, Gastroesophageal Reflux/genetics, Heart Septal Defects, Atrial/genetics, Humans, Infant, Newborn, Magnetic Resonance Imaging, Muscle Hypotonia/genetics, Nucleic Acid Amplification Techniques, Retinal Neoplasms/diagnosis, Retinal Neoplasms/genetics, Retinoblastoma/diagnosis, Retinoblastoma/genetics, Twins, Monozygotic/genetics
Pubmed
Web of science
Création de la notice
19/04/2012 9:53
Dernière modification de la notice
20/08/2019 13:40
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