Skip to main content
Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

Fig. 2

Molecular cytogenetic analysis for Family 2. a The pedigree of family 2. b The wife in family 2 showed recombination chromosome 6 and 11 by G-banding analysis. c The results of the CytoScan750K_Array. The figure shows the signal of loss (Red arrow) in chromosome 6. d The results of WCP 6 (Red signal)/CEP 11 (White signal) FISH show insertion translocation between chromosome 6 and 11. (E) Whole genome DNA sequencing of peripheral blood from the carrier revealed thirteen breakpoints and rearrangement in the karyotypes with a cryptic deletion on chromosome 6. Genetic material from chromosomes 6 and 11 are indicated as purple and blue lines, respectively. BP stands for breakpoint

Back to article page

Molecular Cytogenetics

ISSN: 1755-8166