Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18 - 24/09/13

Doi : 10.1016/j.jpeds.2013.06.005

Ana Spreiz, MS ^1,^{^{∗
Contributed equally.}}, Roberta S. Guilherme, PhD ^2,^{^{∗
Contributed equally.}}, Claudio Castellan, MD ^3,^{^{†
Deceased.}}, Andrew Green, MD ⁴, Olaf Rittinger, MD ⁵, Brigitte Wellek, MD ⁶, Barbara Utermann, MD ¹, Martin Erdel, PhD ^1,⁷, Christine Fauth, MD ¹, Edda Haberlandt, MD ⁸, Chong A. Kim, PhD ⁹, Leslie D. Kulikowski, PhD ⁹, Vera A. Meloni, MD ², Gerd Utermann, MD ¹, Johannes Zschocke, MD, PhD ¹, Maria I. Melaragno, PhD ^2,^⁎ , Dieter Kotzot, MD ^1,^⁎
¹ Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
² Department of Morphology and Genetics, Federal University of Sao Paulo, Sao Paulo, Brazil
³ Clinical Genetics Service, Department of Pediatrics, General Regional Hospital, Bolzano, Italy
⁴ National Center for Medical Genetics, Our Lady's Hospital, Crumlin, Dublin, Ireland
⁵ Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
⁶ Institute of Human Genetics, University Medical Center, Johannes Gutenberg University, Mainz, Germany
⁷ Laboratory of Molecular Biology and Tumor Cytogenetics, Hospital of the Sisters of Charity, Linz, Austria current address
⁸ Clinical Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria
⁹ Children's Institute and Department of Pathology, Faculty of Medicine, Federal University of Sao Paulo, Sao Paulo, Brazil

^∗Reprint requests: Dr med Dieter Kotzot, MD, Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Schoepfstr 41, A-6020 Innsbruck, Austria.^∗∗Prof Dr Maria I. Melaragno, PhD, Departamento de Morfologia e Genetica, Universidade Federal de Sao Paulo, Rua Botucatu 740, Sao Paulo, SP, Brasil.

Abstract

Objective

To study genotype–phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype.

Study design

In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of parental origin, and genotype–phenotype correlation.

Results

No breakpoint was recurrent. Single metaphases with loss of the ring, double rings, or secondarily rearranged rings were found in some cases, but true mosaicism was present in none of these cases. In 3 patients, additional duplications in 18p (of 1.4 Mb, 2 Mb, and 5.8 Mb) were detected. In 1 patient, an additional deletion of 472 kb in Xp22.33, including the SHOX gene, was found. Parental origin of r(18) was maternal in 2 patients and paternal in 4 patients, and formation was most likely meiotic. Karyotype was normal in all investigated parents (n = 15). At birth, mean maternal age was 30 years (n = 9) and mean paternal age was 34.4 years (n = 9).

Conclusion

Genotype–phenotype correlation revealed extensive clinical variability but no characteristic r(18) phenotype. Severity of clinical signs were generally correlated with the size of the deletion. Patients with large deletions in 18p and small deletions in 18q exhibited mainly symptoms related to 18p-, whereas those with large deletions in 18q and small deletions in 18p had symptoms of 18q-.

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Keyword : OFC, r(18), SNP

Plan

Methods

Results

Discussion

Supported by Oesterreichische Nationalbank (Anniversary Fund, 12530 [to M.E.] and 13004 [to D.K.]), Medizinischer Forschungsfond Innsbruck (2007411 to E.H.), and Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (2010/50737-1 to M.M.). The authors declare no conflicts of interest.

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Vol 163 - N° 4

P. 1174 - octobre 2013 Retour au numéro

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Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18 - 24/09/13

Abstract

Objective

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