PMC4683855_01
Facial phenotype of the patient at the age of 16
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Fig1
We examined the proband at the age of 16 years, when dysmorphic features were visibly evident (Fig. 1), including downslanted palpebral fissures, long eyelashes, high palate, pronounced columella, retrognatia and clinodattily of the 5th finger, irregular shaped CLS on the left flank; the patient also had malformed, hypoplastic inner labia, visible only on the superior tract.
Array-CGH analysis showing a 9q21.11 deletion, spanning approximately 176.56 kb and a 9q21.12q21.2 deletion, spanning approximately 7.44 Mb
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Fig2
The array analysis identified a 9q21.11 deletion, spanning approximately 176.56 kb and a 9q21.12q21.2 deletion, spanning approximately 7.44 Mb (Fig. 2).
G-Banding image of rearranged chromosomes 9 (on the left) and of the normal chromosome 9 (on the right) and Multicolour banding image of the rearranged chromosome 9 (on the left) compared to the normal chromosome 9 (on the right) shows bands involved in the rearrangement
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Fig3
The derivative chromosome 9 characterised by Multicolour banding (MCB) showed an anomalous assembly of the bands from the 9p21 band to 9q31 band (Fig. 3), even though MCB 9 was not able to identify the 9p13 region on der(9) perhaps because of a fluorescence overlapping.
Dual-colour-FISH with centromeric probe (green) for chromosomes 9 and BAC probe RP11-182N22 (red) mapping in 9p13.3 region showed that the BAC probe signal was present in the q arm of the der9 (yellow arrow), instead of the p arm of chromosome 9 (blue arrow)
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Fig4
This FISH showed an inversion not revealed by MCB (Fig. 4), as the BAC probe signal was present in the q arm, instead of the p arm, of one chromosome 9.