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Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping
Author(s) -
Peschka B.,
Leygraaf J.,
Hansmann D.,
Hansmann M.,
Schröck E.,
Ried T.,
Engels H.,
Schwanitz G.,
Schubert R.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199912)19:12<1143::aid-pd730>3.0.co;2-9
Subject(s) - karyotype , breakpoint , fluorescence in situ hybridization , biology , chromosomal rearrangement , genetics , cytogenetics , chromosome , comparative genomic hybridization , in situ hybridization , microbiology and biotechnology , gene , gene expression
A complex chromosome rearrangement (CCR) with eight breakpoints resulting in four derivative chromosomes (4, 11, 12 and 13) was detected prenatally in a male fetus of a twin pregnancy. The karyotype of the female second fetus was normal. The apparently balanced de novo CCR was identified by classical cytogenetic methods and fluorescence in situ hybridization (FISH). We compared these findings with results from spectral karyotyping (SKY). Copyright © 1999 John Wiley & Sons, Ltd.