PMC7201554_01
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
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Fig2
This couple (II-3 and II-4 in Fig. 2a), with both partners aged 36 years, visited our hospital to conceive a healthy baby.