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13qdel syndrome and corpus callosum agenesis in two identical twins
Author(s) -
DE FRANCESCO S,
RENIERI A,
DEL LONGO A,
PIOZZI E,
BRACCO S,
VENTURI C,
MENICACCI C,
MUNIER F,
HADJISTILIANOU T
Publication year - 2010
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2010.458.x
Subject(s) - retinoblastoma , agenesis of the corpus callosum , medicine , corpus callosum , identical twins , agenesis , anatomy , biology , genetics , gene , pediatrics
Purpose We report two (twin A and twin B) cases of unilateral retinoblastoma in identical female twins with 13q deletion syndrome. Family history for retinoblastoma was negative. Karyotypic analyses (peripheral lymphocytes) of the brother and their parents showed no abnormalities. Methods Twin A has demonstrated unilateral, multifocal retinoblastoma (left eye), diagnosed at the age of 5 months, which was recalcitrant to systemic chemoreduction, than treated with intraarterial chemotherapy. Twin B has demonstrated unilateral unifocal retinoblastoma (right eye) at 9 months of age, successfully treated with brachytherapy. Both had prominent eyebrows, broad nasal bridge, large, prominent, low – set ears, bulbous tipped nose, large mouth, and thin upper lip. MRI revealed ventricles dilatation associated with corpus callosum agenesis. DNA analysis was performed with polymorphic microsatellite markers to confirm monozygosity. Single‐stranded conformation polymorphism and Southern blot analysis of the retinoblastoma gene were performed. Results Molecular genetic analyses confirmed monozygosity. Conclusion We describe two cases of 13q deletion syndrome in bicorial identical twins.