ArticleJournal of medical genetics1994
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- Independence of centromeric and pericentromeric chromatin stability on CCAN components.Molecular biology of the cell · 2025Article
- Review
- Autosomal ring chromosomes in human genetic disorders.Translational pediatrics · 2015Review
- Clinical, cytogenetic and molecular study of a case of ring chromosome 10.Molecular cytogenetics · 2015Article
- Ring chromosome 10: report on two patients and review of the literature.Journal of applied genetics · 2013Review
- Chromosome r(10)(p15.3q26.12) in a newborn child: case report.Molecular cytogenetics · 2009Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A newborn infant is reported who had aganglionic megacolon, renal hypoplasia, severe growth retardation, generalised hypotonia, and various dysmorphic features. Chromosome analysis of lymphocytes and fibroblasts showed a ring chromosome 10 with breakpoints at p13-15 and q26. AluI digestion showed that the ring chromosome was monocentric. FISH with an alpha satellite probe specific for chromosome 10 showed one signal only in about 20% of interphase nuclei. It is suggested that aganglionic megacolon could result from dynamic somatic mosaicism owing to loss of the ring chromosome.
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