Balestri, P.

chromosome translocation region pkd 1 gene probe patient tsc 2 gene deletion disease proband analysis breakpoint 13.3 genet tuberous sclerosis kidney polycystic syndrome index patient 8 q 24.3 16 p 13.3 father sclerosis article tuberou pkd 1 genes van den ouweland polycystic kidney disease 4 december 2006 eussen 1.8 locus fish analysis signal half brother 24.3 finding chromosome 16 region cosmid cw 9d december centromeric side submicroscopic boehringer mannheim hypopigmented avected fish studies 8 q region jmg.bmj.com addition thalassaemia trait carrier downloaded tsc 2 hypomelanosi index result trisomy cytogenetic carmela di lucca brain mri fig 3 g pac 1.8 f bakker van hemel globin thalassaemia probe 1.8 f duplication retardation abnormality feature genetic cosmid study parent identification dysmorphic bartalini terminal brain