Table 2

Summary of clinical findings in patients with dup 8p23.1

*Also has a deletion of chromosome 15 and features of Prader-Willi syndrome.
Developmental delay or history of developmental delay6/9 (67%)I.1, III.2, III.3, IV.1*, VI.1, VII.1, VIII.1
Short stature3/8 (38%)III.2, III.3, III.4, IV.1*
Cardiac anomalies4/10 (40%)II.1, III.2, IV.2, V.1
Hypotonia2/7 (29%)I.1, VI.1, VII.1, IV.1*
Autistic and PDD spectrum2/9 (22%)III.3, VIII.1
Other birth defects7/12 (58%)I.1, II.1, III.2, III.3, III.4, IV.1*, VI.1, VII.1