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

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

Author Spreiz, Ana Google Scholar
Guilherme, Roberta S. Autor UNIFESP Google Scholar
Castellan, Claudio Google Scholar
Green, Andrew Google Scholar
Rittinger, Olaf Google Scholar
Wellek, Brigitte Google Scholar
Utermann, Barbara Google Scholar
Erdel, Martin Google Scholar
Fauth, Christine Google Scholar
Haberlandt, Edda Google Scholar
Kim, Chong A. Google Scholar
Kulikowski, Leslie D. Google Scholar
Meloni, Vera A. Autor UNIFESP Google Scholar
Utermann, Gerd Google Scholar
Zschocke, Johannes Google Scholar
Melaragno, Maria I. Autor UNIFESP Google Scholar
Kotzot, Dieter Google Scholar
Institution Med Univ Innsbruck
Universidade Federal de São Paulo (UNIFESP)
Gen Reg Hosp
Our Ladys Hosp Sick Children
Paracelsus Med Univ
Johannes Gutenberg Univ Mainz
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-.
Language English
Sponsor Oesterreichische Nationalbank (Anniversary Fund)
Medizinischer Forschungsfond Innsbruck
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Grant number Oesterreichische Nationalbank (Anniversary Fund): 12530
Oesterreichische Nationalbank (Anniversary Fund): 13004
Medizinischer Forschungsfond Innsbruck: 2007411
FAPESP: 2010/50737-1
Date 2013-10-01
Published in Journal of Pediatrics. New York: Mosby-Elsevier, v. 163, n. 4, p. 1174-+, 2013.
ISSN 0022-3476 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 1174-+
Access rights Closed access
Type Article
Web of Science ID WOS:000324873700048

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