Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches
“Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches”, vol. 14, pp. 1692-1699, 2015.
, 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].