Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches

Minasi, Lysa Bernardes; Pinto, Irene Plaza; Almeida, JC; Melo, Aldaires Vieira de; Cunha, DF; Ribeiro, Cristiano Luiz; Silva, Gabriela Pontes da; Brasil, M.G.; Silva, D.M.; Silva, C.C. da; Cruz, Aparecido Divino da

doi:10.4238/2015.march.6.15

Cited by 3 publications

(2 citation statements)

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“…Deletions of chromosome regions are generally the result of double-stranded chromosome breaks, followed by the loss of the resulting a centric fragments during the next cell division. Such deletions can lead to ring chromosomes [1][2][3] .…”

Section: Introductionmentioning

confidence: 99%

“…There are considerable phenotypic variations in patients who carry a ring chromosome in either the complete or the mosaic form 5 . Patients with ring chromosome 13 [r(13)] have various phenotypic abnormalities that correspond to specific breakpoints 2,7 . This case report presents the first instance of de-novo r(13) that has been analysed by our laboratory.…”

Section: Introductionmentioning

confidence: 99%

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Ring Chromosome 13, A Rare Case Report

2020

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This case report describes the cytogenetic and molecular characterization of a child with de-novo ring chromosome 13 [r(13)]. The child presented with short stature, growth retardation and a Turner syndrome diagnosis. She was the first case of ring chromosome 13 cytogenetic alteration observed in our laboratory at Dicle University, Turkey. Her chromosomal composition was 46,XX,r(13). FISH (Fluorescence InSitu Hybridization) also confirmed the presence of r(13). A chromosomal microarray analysis using a CytoScan® Optima assay (Affymetrix) detected a 6.3 Mb deletion at 13q33.3q34. This rare case presented the first r(13) cytogenetic alteration detected in our laboratory.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Ring Chromosome 13, A Rare Case Report

2020

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Ring Chromosome 13

Li,

Chong

2024

Human Ring Chromosomes

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Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Petter

Moreira

Riegel

2019

Case Reports in Genetics

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Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called “dynamic mosaicism”, phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Here, we observed similar mosaicism rates and specific gene loss profile among three individuals with ring chromosome 13 using GTW-banding karyotype analyses along with FISH and CGH-array approaches. Karyotypes results were: patient 1—r(13)(p13q32.3), patient 2—r(13)(p11q33.3), and patient 3—r(13)(p12q31.1). Array-CGH has revealed qualitative genetic differences among patients in this study and it was elusive in precise chromosomal loss statement, ranging from 13 Mb, 6.8 Mb, and 30 Mb in size. MIR17HG and ZIC2 loss was observed in a patient with digital anomalies, severe growth failure, microcephaly and corpus callosum agenesis while hemizygotic EFNB2 gene loss was identified in two patients, one of them with microphtalmia. According to these findings, it can be concluded that specific hemizygotic loss of genes related to development, more than dynamic mosaicism, may be causative of congenital anomalies shown in patients with ring 13 chromosome.

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Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches

Abstract: 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)

Cited by 3 publications

References 23 publications

Ring Chromosome 13, A Rare Case Report

Ring Chromosome 13, A Rare Case Report

Ring Chromosome 13

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

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