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A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect.

G Del Porto·P Grammatico·S De Sanctis·M Esposito·C Di Rosa·C Romano
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Abstract

The authors report on a case of balanced complex chromosomal rearrangement (BCCR) with phenotypic effect, describe the dysmorphisms and malformations observed, and discuss the various pathogenetic mechanisms. On the basis of these considerations, they underline the need for careful reporting of examined cases, distinguishing the characteristic signs from dysmorphisms that are described in several other chromosomal aberrations as well. Finally, they stress the importance of a more precise description of BCCRs for the purpose, among others, of a correct formulation of reproductive risk.

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Abnormalities, MultipleAdultChromosome AberrationsChromosome DisordersChromosomes, Human, Pair 12Chromosomes, Human, Pair 2Chromosomes, Human, Pair 3Chromosomes, Human, Pair 4Chromosomes, Human, Pair 6HumansKaryotypingMalePhenotypeTranslocation, GeneticCase ReportsJournal Article

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G Del Porto, P Grammatico, S De Sanctis, M Esposito, C Di Rosa, C Romano. 1991. A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect.. https://doi.org/10.1111/j.1399-0004.1991.tb03068.x

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