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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

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Spreiz, Ana [1] ; Guilherme, Roberta S. [2] ; Castellan, Claudio [3] ; Green, Andrew [4] ; Rittinger, Olaf [5] ; Wellek, Brigitte [6] ; Utermann, Barbara [1] ; Erdel, Martin [1] ; Fauth, Christine [1] ; Haberlandt, Edda [7] ; Kim, Chong A. [8, 9] ; Kulikowski, Leslie D. [8, 9] ; Meloni, Vera A. [2] ; Utermann, Gerd [1] ; Zschocke, Johannes [1] ; Melaragno, Maria I. [2] ; Kotzot, Dieter [1]
Total Authors: 17
[1] Med Univ Innsbruck, Dept Med Genet, Div Human Genet, A-6020 Innsbruck - Austria
[2] Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo - Brazil
[3] Gen Reg Hosp, Dept Pediat, Clin Genet Serv, Bolzano - Italy
[4] Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin - Ireland
[5] Paracelsus Med Univ, Dept Pediat, Salzburg - Austria
[6] Johannes Gutenberg Univ Mainz, Univ Med Ctr, Inst Human Genet, D-55122 Mainz - Germany
[7] Med Univ Innsbruck, Clin Dept Pediat 1, A-6020 Innsbruck - Austria
[8] Univ Fed Sao Paulo, Fac Med, Childrens Inst, Sao Paulo - Brazil
[9] Univ Fed Sao Paulo, Fac Med, Dept Pathol, Sao Paulo - Brazil
Total Affiliations: 9
Document type: Journal article
Source: JOURNAL OF PEDIATRICS; v. 163, n. 4, p. 1174+, OCT 2013.
Web of Science Citations: 4

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-. (AU)