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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• 作者：G. Christopoulou^a ; M. Tzetis^b ; A.E. Konstantinidou^c ; A. Tsezou^d ; E. Kanavakis^b ; S. Kitsiou-Tzeli^b ; V. Velissariou^a ; ^{voulavel@mitera.gr}
• 关键词：10p15.3&ndash ; p14 Deletion ; 10q26.3 Deletion ; Ring chromosome 10 ; Prenatal diagnosis ; Array CGH
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 出版时间：January 2012
• 年：2012
• 卷：55
• 期：1
• 页码：75-79
• 全文大小：523 K

文摘

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.