ArticleMolecular cytogenetics2011
De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.
Article in Molecular cytogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 6 citations in OpenAlex.
- New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involvingJournal of medical genetics · 2022Article
- Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.Genome medicine · 2017Article
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10 authors at 3 institutions in 1 country.
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Abstract
Chromosome rearrangements involving telomeres have been established as one of the major causes of idiopathic mental retardation/developmental delay. This case of 7p partial trisomy syndrome in a 3-year-old female child presenting with developmental delay emphasizes the clinical relevance of cytogenetic diagnosis in the better management of genetic disorders. Application of subtelomeric FISH technique revealed the presence of interstitial telomeres and led to the ascertainment of partial trisomy for the distal 7p segment localized on the telomeric end of the short arm of chromosome 19. Whole-genome cytogenetic microarray-based analysis showed a mosaic 3.5 Mb gain at Xq21.1 besides the approximately 24.5 Mb gain corresponding to 7p15.3- > pter. The possible mechanisms of origin of the chromosomal rearrangement and the clinical relevance of trisomy for the genes lying in the critical regions are discussed.
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