Figure 1.
These Chinese VCFS patients all presented with a characteristic face, consisting of vertically long face, narrow palpebral fissures, fleshy nose with a broad nasal root, flattened malar region, retrognathia, and sometimes overfolded helix (E) or cup-shaped ear (F).
Table 1.
Summary of patient data.
Figure 2.
Data of MLPA analysis with P250-B1 DiGeorge kit.
The four graphs represent four patients’ data analyzed by MLPA. In each graph, the spots represent MLPA probes, the upper green line indicates a peak ratio of 1.3 and any probes above this line represent a duplication, the lower green line indicates a peak ratio of 0.75 and any probes below this line represents a deletion, and the probes between the two lines are considered as normal two copies. (A): A patient with 22q11.2 deletion spanning 3Mb TDR (red spots). (B) A patient with 22q11.2 deletion spanning proximal 1.5Mb (red spots) within TDR. (C): A patient with 22q11.2 duplication (red spots) mapping to 3Mb TDR. (D) A patient with normal copy probes.
Figure 3.
The results of 55 patients detected by MLPA.
A total of 43 cases (78.2%) showed 22q11.2 heterozygous deletion, of whom 40 (93.0%) exhibited typical 3-Mb deletion, while 3 (7.0%) showed proximal 1.5-Mb deletion; no case was found having atypical deletion on 22q11.2. Only 1 case (1.8%) had 3-Mb duplication. None of the chromosomal abnormalities in the MLPA kit were found in the other 11 patients.
Figure 4.
Number of patients presenting with major clinical features of VCFS.
All cases with characteristic faces exhibited 22q11.2 heterozygous deletions.