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Fig. 1: (A) Partial fluorescence in situ hybridization (FISH) metaphase from patient 1 showing the differentially coloured chromosomes 20 (turquoise) with a similar coloured segment attached to the chromosome 14 labelled 14p+. (B) Partial FISH metaphase from patient 1 showing the chromosomes 20 with their short (p) arms labelled red, with a similar coloured segment attached to the chromosome 14 labelled 14p+.
Fig. 1: (A) Partial fluorescence in situ hybridization (FISH) metaphase from patient 1 showing the differentially coloured chromosomes 20 (turquoise) with a similar coloured segment attached to the chromosome 14 labelled 14p+. (B) Partial FISH metaphase from patient 1 showing the chromosomes 20 with their short (p) arms labelled red, with a similar coloured segment attached to the chromosome 14 labelled 14p+.
Fig. 3: Partial FISH metaphase from patient 2 showing the 2 chromosome 17s highlighted by a pink fluorescent stain. The chromosome marked with the white arrow is missing the stain for the Smith-Magenis locus and has only the control fluorescence. The normal chromosome has 2 fluorescent points.
Fig. 2: Partial lateral photograph of patient 2 showing the underdeveloped malar region, the philtrum running parallel to the nose and an everted lower lip, which are all characteristic of Smith-Magenis syndrome.
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