TABLE 1.
Summary of clinical features of the patients reported herein in addition to the patients FG2 reviewed previously (Grote et al., 2015; Marcelis et al., 2008)
| Features | Patient 1 | Patient 2 | Patient 3 | FG2 |
|---|---|---|---|---|
| Deletion size | 8 Mb | 1.84 Mb | 1.84 Mb | 165 kb–17.2 Mb |
| Sex | Male | Male | Male | 6 M:11F reported |
| Microcephaly | Y | N | Y | 88% (14/16) |
| Short stature | Y | N | Y | 86% (13/14) |
| DD/ID/LD | Y | Y | Y | 100% (16/16) |
| Brachymesophalangy | Y | Y | Y | 100% (17/17) |
| 5th finger clinodactyly | Y | Y | Y | 100% (9/9) |
| Thumb hypoplasia | N | N | N | 33% (4/12) |
| Toe Syndactyly | N | Y | Y | 64% (9/14) |
| Gastrointestinal atresia | N | N | N | 0% (0/18) |
| Cardiac defect | Ya | Yb | N | 40%c (4/10) |
| Deafness/hard-of-hearing | N | N | N | 66% (2/3) |
| Keratokonus | N | N | N | 1 patient |
| Strabismic amblyopia | N | Y | N | NR |
| Compressed adenohypophysis | Y | N | N | NR |
| Memory impairment | N | Y | Y | NR |
| Insomnia | N | Y | Y | NR |
When no report was made of the presence or absence of a feature, that patient was not included in the denominator. Current study’s patients included in FG2 summary column. NA = not applicable; NR = frequency not reported.
a
Dilated aortic annulus, aortic root, and sinotubular junction.
b
Bicuspid aortic valve.
c
Stenotic bicuspid aortic valve with trivial regurgitation, tetralogy of Fallot, unspecified.