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Background  The association of balanced rearrangements with breakpoints near  SOX9  [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of  SOX9  expression by the direct disruption of regulatory elements, their separation from  SOX9  or the effect of juxtaposed sequences.    Case presentation  We report on two sporadic apparently balanced translocations, t(7;17)(p13;q24) and t(17;20)(q24.3;q11.2), whose carriers have skeletal abnormalities that led to the diagnosis of acampomelic campomelic dysplasia (ACD; MIM 114290). No pathogenic chromosomal imbalances were detected by a-CGH. The chromosome 17 breakpoints were mapped, respectively, 917–855 kb and 601–585 kb upstream of the  SOX9  gene. A distal cluster of balanced rearrangements breakpoints on chromosome 17 associated with  SOX9 -related skeletal disorders has been mapped to a segment 932–789 kb upstream of  SOX9 . In this cluster, the breakpoint of the herein described t(17;20) is the most telomeric to  SOX9 , thus allowing the redefining of the telomeric boundary of the distal breakpoint cluster region related to skeletal disorders to 601–585 kb upstream of  SOX9 . Although both patients have skeletal abnormalities, the t(7;17) carrier presents with relatively mild clinical features, whereas the t(17;20) was detected in a boy with severe broncheomalacia, depending on mechanical ventilation. Balanced and unbalanced rearrangements associated with disorders of sex determination led to the mapping of a regulatory region of  SOX9  function on testicular differentiation to a 517–595 kb interval upstream of  SOX9 , in addition to TESCO (Testis-specific enhancer of  SOX9  core). As the carrier of t(17;20) has an XY sex-chromosome constitution and normal male development for his age, the segment of chromosome 17 distal to the translocation breakpoint should contain the regulatory elements for normal testis development.    Conclusions  These two novel translocations illustrate the clinical variability in carriers of balanced translocations with breakpoints near  SOX9.  The translocation t(17;20) breakpoint provides further evidence for an additional testis-specific  SOX9  enhancer 517 to 595 kb upstream of the  SOX9  gene.

bmc medical genetics

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