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. Issue 4 (1st April 2000)

• Record Type: Journal Article
• Authors: Eussen, Bert H J; Bartalini, Gabriella; Bakker, Lida; Balestri, Paolo; Di Lucca, Carmela; Van Hemel, Jan O; Dauwerse, Hans; van den Ouweland, Ans M W; Ris-Stalpers, Carrie; Verhoef, Senno; Halley, Dicky J J; Fois, Alberto
• Is Part Of: Journal of medical genetics. Volume 37:Issue 4(2000)
• Page Start: 287
• Page End: 291
• Publication Date: 2000-04-01
• Subjects: PKD1 -- TSC2 -- HI -- partial trisomy/monosomy; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.37.4.287
• Languages: English
• ISSNs: 1468-6244

Abstract

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 α 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.