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Article

Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion.

Clinical genetics - 1 Jun 1999

Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F

Abstract excerpt

We describe the facial dysmorphic phenotype and the neurological development of a series of 22 retinoblastoma patients sharing a cytogenetically detectable 13q deletion in a retrospective and longitudinal study. In most of the cases, high-resolution banding analysis, morphological analysis, and assessment for neurodevelopmental outcome, as well for organ malformations, were performed. Chromosomal rearrangement...

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Identifiers

PMID: 10450867
DOI: 10.1034/j.1399-0004.1999.550614.x

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