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Position effect modifying gene expression in a patient with ring chromosome 14

100%

Guilherme R. S., Moyses-Oliveira M., Dantas A. G., Meloni V. A., Colovati M. E., Kulikowski L. D., Melaragno M. I.

Journal of Applied Genetics

2016

tom 57

nr 2

Ring chromosome 10: report on two patients and review of the literature

84%

Guilherme R. S., Ae Kim C., Alonso L. G., Honjo R. S., Meloni V. A., Christofolini D. M., Kulikowski L. D., Melaragno M. I.

Journal of Applied Genetics

2013

tom 54

nr 1

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.

Ograniczanie wyników

2 Journal of Applied Genetics

2 Guilherme R. S.

2 Kulikowski L. D.

2 Melaragno M. I.

2 Meloni V. A.

1 Ae Kim C.

1 Alonso L. G.

1 Christofolini D. M.

1 Colovati M. E.

1 Dantas A. G.

1 Honjo R. S.

1 Moyses-Oliveira M.

1 2016

1 2013

Wyniki wyszukiwania

Position effect modifying gene expression in a patient with ring chromosome 14

Ring chromosome 10: report on two patients and review of the literature