Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.
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| Abstract |
Ring chromosomes are rare cytogenetic findings and are mostly associated with an abnormal phenotype. We report on the prenatal diagnosis of a ring chromosome 10 in a fetus in which talipes equinovarus was incidentally found during routine obstetric ultrasound at 22 weeks of gestation. Amniocentesis was undertaken and cytogenetic analysis revealed a de novo non-mosaic apparently stable ring chromosome 10 replacing one of the two homologs. Multiplex Ligation-dependent Probe Amplification (MLPA) revealed subtelomeric deletions in both the short and long arm of chromosome 10. Analysis with high resolution micro-array based comparative genomic hybridization (array-CGH), defined the ring chromosome as del 10p15.3-p14 (12.59 Mb in size) and del 10q26.3 (4.22 Mb in size) and revealed the genes that are deleted. After elected termination of the pregnancy at 27th week of gestation a detailed autopsy of the fetus allowed for genotype-phenotype correlations. To our knowledge, this is the first case of a de novo ring chromosome 10 which is reported during prenatal diagnosis and is thoroughly investigated with array CGH and autopsy study.
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| Authors | G Christopoulou, M Tzetis, A E Konstantinidou, A Tsezou, E Kanavakis, S Kitsiou-Tzeli, V Velissariou |
| Journal | European journal of medical genetics (Eur J Med Genet) Vol. 55 Issue 1 Pg. 75-9 (Jan 2012) ISSN: 1878-0849 [Electronic] Netherlands |
| PMID | 21914491 (Publication Type: Case Reports, Journal Article) |
| Copyright | Copyright © 2011 Elsevier Masson SAS. All rights reserved. |
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