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Figure 1 | BMC Medical Genetics

Figure 1

From: The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

Figure 1

Analysis of the t(7;17) breakpoint regions on chromosomes 7 and 17. (A) Chromosome 7 clone RP11-256F18 yielded FISH signals on the normal 7 and on the der(17). Clone RP5-1032B10 produced FISH signals on the normal 7 and on the der(7). The 53 kb segment (chr7:43,130,626-43,183,638) between these clones contains the chromosome 7 breakpoint. The HECW1 gene, partially mapped to this interval, is depicted. (B) Chromosome 17 clones RP11-1087C16 and RP11-261A13 produced FISH signals on the normal 17 and on both the der(7) and the der(17); the weaker signal of RP11-1087C16 on the der(7) suggests that the breakpoint occurred at the distal end of this clone. Clone RP11-433D1 yielded FISH signals on the normal 17 and on the der(7). The 62 kb segment of overlap between clones RP11-1087C16 and RP11-261A1, delimited by the sequence of clone RP11-1087C16 that does not overlap with clone RP11-433D1, contains the translocation breakpoint (chr17: 69,201,539-69,262,086). (Based on UCSC Genome Bioinformatics, hg19).

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BMC Medical Genetics

ISSN: 1471-2350

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