A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

We report of case of a complex chromosomal rearrangement detected prenatally and studied with traditional banding methods and fluorescence in situ hybridization. The combination of these techniques showed that four chromosomes were involved in the translocation. Nine breakpoints were proposed to exp...

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Bibliographic Details
Published inHuman genetics Vol. 92; no. 2; p. 117
Main Authors Batista, D A, Tuck-Muller, C M, Martinez, J E, Kearns, W G, Pearson, P L, Stetten, G
Format Journal Article
LanguageEnglish
Published Germany 01.09.1993
Subjects
Adult
Amniocentesis
Chromosome Aberrations
Chromosome Banding
Chromosome Inversion
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 9
Female
Fetal Diseases - diagnosis
Fetal Diseases - genetics
Fibroblasts
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Pregnancy
Prenatal Diagnosis - methods
Telomere
Translocation, Genetic
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Summary:We report of case of a complex chromosomal rearrangement detected prenatally and studied with traditional banding methods and fluorescence in situ hybridization. The combination of these techniques showed that four chromosomes were involved in the translocation. Nine breakpoints were proposed to explain these results. Some of the findings could only be detected with fluorescence in situ hybridization, demonstrating the usefulness of this technique in characterizing chromosomal abnormalities that would otherwise be difficult to interpret correctly with classical cytogenetics alone.
ISSN:0340-6717
DOI:10.1007/BF00219677