PMC4264972_01
This 11 year-old girl with (A) coarse face, hirsutism, hypertelorism, synophrys, bilateral mild epicanthic folds, broad and flat nasal bridge. (B) low set, posterior rotated and mild dysplastic ear.
40681_2014_7_Fig2_HTML.jpg
PMC4264972_01_40681_2014_7_Fig2_HTML.jpg
Fig1
Facial abnormalities (Fig 1A&B) included a coarse face, hairy skin, synophrys, bilateral mild epicanthic folds, but no blepharophimosis.
Genome-Wide Human SNP Array 6.0 was performed and revealed a deletion at cytoband 3q25.33; physical position 160.277-160.450 Mb about the size of 173 Kb. Her father had the same cytogenic deletion
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PMC4264972_01_40681_2014_7_Fig3_HTML.jpg
Fig2
Giemsa was applied 550 band resolution. G-banding analysis revealed that the patient had a karyotype of 46, xx, deletion at cytoband 3q25.33 (Fig 2).