title: 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.
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.
authors.affiliation: Department of Genetics and Molecular Biology, General, Maternity/Gynecological and Pediatric Clinic Mitera, 6 Erythrou Stavrou St., 15123 Maroussi, Athens, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Christopoulou
authors.forename: M
authors.initials: M
authors.lastname: Tzetis
authors.forename: A E
authors.initials: AE
authors.lastname: Konstantinidou
authors.forename: A
authors.initials: A
authors.lastname: Tsezou
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: S
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: V
authors.initials: V
authors.lastname: Velissariou
mesh_terms: D000649:Amniocentesis; D001344:Autopsy; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000166:cytology* / Q000473:pathology; D056726:Genetic Association Studies; D005865:Gestational Age; D006801:Humans; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D012303:Ring Chromosomes; D016216:Ultrasonography, Prenatal