Table 2

 Overview of clinical findings in patients with de novo aberrations

PatientAberrationSize (Mb)Short statureMajor morphological anomaliesSeizuresDe 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.
104Del 1p32.2–31.1*14.00+TOF, HC, DK, JA, HCC5
77Del 5q14.3–155.60HCC+1
96Del 6q16.1–2112.80DORV2
45Del 7p22.3–22.21.50CP, scoliosis, TOF4
42Del 16p12.10.701
72Dup 17p11.23.70+3
12Del 17q21.310.40+VSDs+4
5Del 18q21.21.20+HSCR, HCC, MC31+3
85Del 19p13.11–p124.50TOF, macrocephalus4
Dup 19q13.11–q13.122.70
100Del 21q22.11–q22.123.00+3