Article
Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches.
Genetics and molecular research : GMR - 6 Mar 2015
Minasi L B, Pinto I P, de Almeida J G, de Melo A V, Cunha D M C, Ribeiro C L, Silva G P, Brasil M G, Silva D M, da Silva C C, da Cruz A D
Abstract excerpt
We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showed the absence of...
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