Patient | Aberration | Size (Mb) | Short stature | Major morphological anomalies | Seizures | De Vries score |
---|---|---|---|---|---|---|
CP, cleft palate; DK, double kidney; DORV, double outlet right ventricle; HC, hydrocephalus; HCC, hypoplasia of corpus callosum; HSCR, Hirschsprung disease; JA, jejuneal atresia; MC, microcephaly; TOF, tetralogy of Fallot; VSD, ventricle septum defect. | ||||||
*Data from the parents of this patient were not available, but because of the large deletion size, this aberration was considered to be disease-causing. | ||||||
104 | Del 1p32.2–31.1* | 14.00 | + | TOF, HC, DK, JA, HCC | − | 5 |
77 | Del 5q14.3–15 | 5.60 | − | HCC | + | 1 |
96 | Del 6q16.1–21 | 12.80 | − | DORV | − | 2 |
45 | Del 7p22.3–22.2 | 1.50 | − | CP, scoliosis, TOF | − | 4 |
42 | Del 16p12.1 | 0.70 | − | – | − | 1 |
72 | Dup 17p11.2 | 3.70 | + | – | − | 3 |
12 | Del 17q21.31 | 0.40 | + | VSDs | + | 4 |
5 | Del 18q21.2 | 1.20 | + | HSCR, HCC, MC31 | + | 3 |
85 | Del 19p13.11–p12 | 4.50 | − | TOF, macrocephalus | − | 4 |
Dup 19q13.11–q13.12 | 2.70 | |||||
100 | Del 21q22.11–q22.12 | 3.00 | + | − | − | 3 |