Abstract
Ring chromosome 10—r(10)—is a rare disorder, with 14 cases reported in the literature, but only two with breakpoint determination by high-resolution techniques. We report here on two patients presenting a ring chromosome 10, studied by G-banding, fluorescent in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and SNP-array techniques, in order to investigate ring instability and determine breakpoints. Patient 1 showed a r(10)(p15.3q26.2) with a 7.9 Mb deletion in 10q26.2-q26.2, while patient 2 showed a r(10)(p15.3q26.13) with a 1.0 Mb deletion in 10p15.3 and a 8.8 Mb deletion in 10q26.13-q26.3, both unstable. While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed legs, and dermal pigmentation regions. Our data and the data from literature show that there are no specific clinical findings to define a r(10) syndrome.
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This work was supported by FAPESP, Brazil (Grant to MIM).
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Guilherme, R.S., Kim, C.A., Alonso, L.G. et al. Ring chromosome 10: report on two patients and review of the literature. J Appl Genetics 54, 35–41 (2013). https://doi.org/10.1007/s13353-012-0128-7
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DOI: https://doi.org/10.1007/s13353-012-0128-7