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

BMC Medical Genetics

Table 2 Results from microsatellite marker analysis

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

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.

ISSN: 1471-2350