Table 2

Results from microsatellite marker analysis
Patient Chromosome location Marker Location start Location stop Patient Mother Father Associated OMIMdisease(gene)
1 15q23q24.1 D15S204 72300758 72300879 123/123 123/125 123/125 MIM #209900, Bardet-Biedl Syndrome (BBS4)
D15S124 73092468 73092572 104/106 106/106 104/106
17 6q16.3 D6S468 101630330 101630479 155/159 159/159 155/155 MIM #611092, Mental retardation (GRIK2)
D6S2418 101352425 101352639 222/230 222/248 230/238
32 11q13.4 DS11S4140 71945684 71945874 195/195 195/197 195/197 MIM #270400, Smith-Lemli-Opitz syndrome (DHCR7)
28 17p13.2p13.1 D17S578 6824007 6824153 173/173 173/173 155/173 MIM #201475, AcylCoA dehydrogenase deficiency (ACADVL)
D17S1832 5972677 5972867 173/185 173/185 171/173/185/193
D17S1828 3810467 3810673 220/220 214/220 214/220

The table presents the results of microsatellite marker analysis of 4 patients and their parents, suggesting biparental inheritance of the genomic segment, and thus exclude segmental UPD. The numbers in the patient/mother/father column represent the two markers detected. In all cases, the patient has likely inherited one marker from each parent.

Siggberg et al.

Siggberg et al. BMC Medical Genetics 2012 13:84   doi:10.1186/1471-2350-13-84

Open Data