PMC3896849_01
Craniofacial features and genomic oligo-array data observed in the patient. Frontal (a) and (b) lateral view of the 3-year-old patient carrying a de novo 13q13.3q21.31 interstitial deletion long face with curly hair, bilateral epicanthus, broad nasal bridge, short nose with a long philtrum, thin upper lip and modest micrognathia (c) Chromosome 13 profile from oligo array-CGH showing the 27.87 megabases deletion in 13q13.3q21.31 spanning from 37,447,455 -65,319,891 base pairs (for Methods see text).
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F1
Craniofacial dysmorphism included long face with curly, black hair, bilateral epicanthus, broad, saddles nasal bridge with a long philtrum, thin upper lip, down-turned corners of the mouth, overgrowth of the upper alveolar bed and arched palate and mild micrognathia (Figure 1a,b). Array-CGH revealed a 27.87 Mb loss affecting the 13q13.3q21.31 region, with a proximal breakpoint located on 13q13.3 (position 37,447,455 bp) and a distal breakpoint located on 13q21.31 (position 65,319,891 bp) according to the GRCh37/hg19 genome release (Figure 1c).