Article
A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect.
Clinical genetics - 1 Jul 1991
Del Porto G, Grammatico P, De Sanctis S, Esposito M, Di Rosa C, Romano C
Abstract excerpt
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 e...
Topics
- Abnormalities, Multiple
- Adult
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 3
- Chromosomes, Human, Pair 4
- Chromosomes, Human, Pair 6
- Humans
- Karyotyping
- Male
- Phenotype
- Translocation, Genetic
