Characteristic face of VCFS.

<p>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).</p

The results of 55 patients detected by MLPA.

<p>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.</p

Data of MLPA analysis with P250-B1 DiGeorge kit.

<p>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. (<b>A</b>): A patient with 22q11.2 deletion spanning 3Mb TDR (red spots). (<b>B</b>) A patient with 22q11.2 deletion spanning proximal 1.5Mb (red spots) within TDR. (<b>C</b>): A patient with 22q11.2 duplication (red spots) mapping to 3Mb TDR. (<b>D</b>) A patient with normal copy probes.</p

Summary of patient data.

<p>M, male; F, female; CHD, congenital heart disease; +, presence of symptoms; −, absence of symptoms or no CVNs in MLPA detection; del, deletion; dup, duplication.</p

Number of patients presenting with major clinical features of VCFS.

<p>All cases with characteristic faces exhibited 22q11.2 heterozygous deletions.</p