ArticleMolecular cytogenetics2009
Chromosome r(10)(p15.3q26.12) in a newborn child: case report.
Article in Molecular cytogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 83 citations in OpenAlex.
- Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review.Molecular cytogenetics · 2021Article
- Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.Molecular syndromology · 2015Article
- Clinical, cytogenetic and molecular study of a case of ring chromosome 10.Molecular cytogenetics · 2015Article
- Human Ring Chromosomes - New Insights for their Clinical Significance.Balkan journal of medical genetics : BJMG · 2013Article
- Ring chromosome 10: report on two patients and review of the literature.Journal of applied genetics · 2013Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRing chromosome 10 is a rare cytogenetic finding. Of the less than 10 reported cases we have found in the literature, none was characterized using high-resolution microarray analysis. Ring chromosomes are frequently unstable due to sister chromatid exchanges and mitotic failures. When mosaicism is present, the interpretation of genotype-phenotype correlations becomes extremely difficult.
resultsWe report on a newborn girl with growth retardation, microcephaly, congenital heart defects, dysmorphic features and psychomotor retardation. Karyotyping revealed a non-mosaic apparently stable ring chromosome 10 replacing one of the normal homologues in all analyzed metaphases. High-resolution oligonucleotide microarray analysis showed a de novo approximately 12.5 Mb terminal deletion 10q26.12 -> qter and a corresponding 285 kb terminal deletion of 10pter -> p15.3.
conclusionThis case demonstrates that an increased nuchal translucency thickness detected by early ultrasonography should preferably lead to not only QF-PCR for the diagnosis of Down syndrome but also karyotyping. In the future, microarray analysis, which needs further evaluation, might become the method of choice. The clinical phenotype of our patient was in agreement with that of patients with a terminal 10q deletion. For the purpose of genotype-phenotype analysis, there seems to be no need for a "ring syndrome" concept.
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