ArticleJournal of medical genetics2000
An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 81 citations in OpenAlex.
- Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.Life science alliance · 2024Article
- Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation.Chinese medical journal · 2019Article
- Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.BMC medical genetics · 2014Article
- Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2010Review
- Glomerulocystic kidney disease in hypomelanosis of Ito.Pediatric nephrology (Berlin, Germany) · 2008Article
- Refinement of the genetic cause of ATR-16.Human genetics · 2007Article
- Delineation of complex chromosomal rearrangements: evidence for increased complexity.Human genetics · 2004Article
- Telomeres: a diagnosis at the end of the chromosomes.Journal of medical genetics · 2003Review
- Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.American journal of human genetics · 2001Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt. The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.
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