PMC3916307_01
Case 1 at 4 years 2 months of age (1a), and case 2 at 6 years 8 months of age (1b). In these patients, there is evidence of some of the typical facial dysmorphisms of 1p36 deletion syndrome with Prader-Willi-like phenotype.
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F1
Examination of the mother revealed some mild dysmorphism, clinodactyly of the fifth finger, and a mild learning disability (Figure 1b).
Array-CGH analysis showing a deletion of approximately 1.5 Mb that involved the 1p36.33 region, with the breakpoint falling between 554,268 bp and 2,133,973 bp (2a), and a deletion of approximately 2.5 Mb that involved the 1p36.33 - 1p36.32 region, with the breakpoint falling between 564,424 bp and 3,111,905 bp (2b).
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F2
Break point positions were reported according to Hg19, with build 37 falling between 564,424 bp (first-deleted oligomer) and 3,111,905 bp (last-deleted oligomer), which showed a deletion of approximately 2.5 Mb that involved the 1p36.33 - 1p36.32 region (Figure 2b).