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Table 2 Results from microsatellite marker analysis

From: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results

Patient Chromosome location Marker Location start Location stop Patient Mother Father Associated OMIM disease (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  
  1. 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.