Fig. 1 | Genetics in Medicine

Fig. 1

From: Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Fig. 1

17p11.2 deletions identified in patients with Smith-Magenis syndrome. Deletion mapping using FISH probes representative of the loci in the region is shown.4,18,19,21 The order of the clones is according to Lucas et al.23 and confirmed by www.genome.ucsc.edu. 17p11.2 regions that are not deleted (hatched boxes); deletion of a particular probe/locus (open boxes); and RAI1 (black box). (A) Common SMS deletion (3.5 Mb) seen in 8 individuals (SMS102, SMS105, SMS108, SMS111, SMS118, SMS123, SMS126, and SMS131); (B) Large 17p11.2 deletion (SMS112, SMS116); C–J are unusual deletions: (C) SMS217; (D) SMS162, SMS167, and SMS170; (E) SMS109 and SMS143; (F) SMS146; (G) SMS149; (H) M2359; (I) SMS135; (J) SMS182; and (K) Patients not deleted for any 17p11.2 probe (10 cases, see Methods).

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