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Article

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

15 Nov 1994

Abstract excerpt

A complex chromosome rearrangement (CCR) involving chromosomes 7, 8, and 13 was detected in a phenotypically normal woman ascertained through her mentally retarded son with abnormal phenotype. He had a karyotype with 47 chromosomes including an extra der(13). In initial banding studies the CCR in the mother was interpreted as a three-way translocation. Fluorescence in situ hybridization with whole chromosome...

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Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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Identifiers

PMID: 7856662
DOI: 10.1002/ajmg.1320530311

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