title: Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches.
abstract: 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 13qter and the presence of 13q14.3 in the cells with r(13), and chromosome microarray analysis detected a 15.39 Mb deletion in chromosome region 13q32.3-q34. This study is intended as the registry of a rare case of chromosomal rearrangement involving chromosome 13 in Central Brazil. Further studies are needed to define whether genetic haploinsufficiency is associated with each major 13q deletion anomaly.
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil minasilb@gmail.com.
authors: L B
authors: LB
authors: Minasi
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: I P
authors: IP
authors: Pinto
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: J G
authors: JG
authors: de Almeida
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: A V
authors: AV
authors: de Melo
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: D M C
authors: DM
authors: Cunha
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: C L
authors: CL
authors: Ribeiro
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: G P
authors: GP
authors: Silva
authors: Hospital das Clínicas de Goiânia, Goiânia, GO, Brasil.
authors: M G
authors: MG
authors: Brasil
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: D M
authors: DM
authors: Silva
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: C C
authors: CC
authors: da Silva
authors: Núcleo de Pesquisas Replicon, Departamento de Biologia, Pontifícia Universidade Católica de Goiás, Goiânia, GO, Brasil.
authors: A D
authors: AD
authors: da Cruz
mesh_terms: D001938:Brazil; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007399:Interphase; D007621:Karyotyping; D010641:Phenotype; D012303:Ring Chromosomes