Age/ Sex | Dysmorphic features | CHD | MR | Dental Anomalies | Hyper calcemia | FISH | Array-CGH del. size | |
---|---|---|---|---|---|---|---|---|
680-11 | 8 yr/ F | + | SVAOS | + | + | No | Del 7 (q11.23) | Del 7q 1.42 Mb |
Bl-744-10 | 35 yr/F | Mother of case No. 680-11 | – | – | – | – | – | Dup 22q11.21 |
664-10 | 6 yr/M | + features of WBS | SVAOS | + | + | Del 7 (q11.23) | Del 7q (qPCR) 1.8 Mb | |
1190-10 | 9 yr/F | SVAOS, Medullary nephrocalcinosis | SVAOS, AoCo, mild valvular Pul. st | + | + | No, high phosph | Del ch.7 (q11.23) | Del 7q (qPCR) 1.40 Mb |
1071-11 | 18 yr/F | Characteristic features of WBS | SVAOS | + | + | yes | Del 7q (q11.23) | Del 7q 1.44 Mb |
320-12 | 3 yr/F | Dysmorphic Mild LPA stenosis | SVAOS | + | + | No | Del 7q (q11.23) | Del 7q 1.41 Mb |
1771-10 | 29 yr/ F | Mother of case No. 320-12 | – | – | – | – | No del | Dup 7q11.23 3.347 Mb |
1787-10 | 4 yr/F | + Inguinal hernia | Congenital Pul. valve stenosis | + | + | No. High phosph | Del 7q (q11.23) | Del 7q 1.42 Mb |
272-14 | 2 yr/M | + Inguinal hernia, short stature | Pul. St, ASD, VSD | + | + | Del 7q (q11.23) | Del 7q 1.39 Mb | |
858-14 | 5y/ F | + features of WBS | Pulm. St, PFO | + | + | + | Del 7q11.23 | Del 7q 1.42 Mb |
663-10 | 14 yr/F | Dysmorphic, speech delay, MR | Aortic stenosis | + | – | – | 45,XX, der (19) t(18:19), (q11.1;p13.3 | Del 18p11.32–p11.21 (14.859 Mb) |
1140-11 | 7 yr/F | Squint, bulbous nose, flat nasal bridge, wide mouth, periorbital fullness, MR | VSD | + | + | No | Not done | Del 7q 0.2 Mb by qPCR |
718-10 | 2 yr/F | dil. Cardiomyopath seizure, failure to thrive, left vocal cord paralysis | Trivial mitral regurge, trivial pulmonary. insufficiency | + | – | Cong. Hypo- calcemia | No del | Dup 7q11.23 (3.249 Mb) |
889-12 | 1.1 yr/ F | dysmorphic | Supra valvular Ao. St., Lt pulmon.st | − | − | No del | Dup 7q11.23 | |
289-13 | 1.5 yr F | DD, microcephaly, low set ears, epilepsy, semian crease | Pulm. St. | − | – | − | No del 7q | Dup7q11.22–q11.23 − |