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.