Table 4.
Summary of features in individuals with 12p12.1 abnormalities in current cohort and in the literature.
| SOX5-only abnormalitiesa | Large deletions in this reportb | Moleculary characterized deletions in the literaturec | Cytogenetically defined 12p12.1 deletionsd | |
|---|---|---|---|---|
| Short stature | 1/8 | 1/7 | 3/3 | 5/8 |
| Failure to thrive/low weight | 3/9 | 1/7 | 1/3 | 9/9 |
| Microcephaly | 2/8 | 2/7 | 1/1 | 6/8 |
| Developmental delay/intellectual disability | 9/9 | 7/7 | 3/3 | 9/9 |
| Speech delay | 8/9 | 5/5 | 3/3 | 5/6 |
| Behavior problems | 5/9 | 5/5 | 0/2 | 1/7 |
| Brain abnormalities | 2/5 | 4/5 | 1/2 | 1/2 |
| Hypotonia | 4/8 | 4/7 | 0/3 | 3/9 |
| Seizures | 2/9 | 1/7 | 0/4 | 1/9 |
| Optic nerve atrophy | 0/9 | 1/7 | 0/3 | 2/9 |
| Strabismus | 6/9 | 2/7 | 0/3 | 3/9 |
| Abnormal hearing/auditory canals | 0/9 | 1/7 | 1/3 | 2/9 |
| Dysmorphic features | 6/9 | 6/7 | 3/4 | 9/9 |
| Frontal bossing | 4/9 | 1/7 | 0/4 | 1/9 |
| Blue sclerae | 1/9 | 1/7 | 0/4 | 1/9 |
| Abnormal nasal bridge | 2/9 | 2/7 | 3/4 | 4/9 |
| Low-set ears | 0/9 | 1/7 | 3/4 | 6/9 |
| Micro/retrognathia | 1/9 | 0/7 | 1/4 | 9/9 |
| Cleft lip and/or palate | 0/9 | 0/7 | 2/4 | 0/9 |
| Short/broad neck | 0/9 | 0/7 | 1/4 | 3/9 |
| Sparse or abnormal hair | 0/9 | 1/7 | 1/4 | 2/9 |
| Irregular teeth/oligodontia | 0/9 | 1/7 | 1/3 | 4/9 |
| Brachydactyly | 0/9 | 2/7 | 2/4 | 5/9 |
| Clinodactyly/deviated fingers or toes | 1/9 | 4/7 | 2/4 | 5/9 |
| Craniosynostosis | 0/9 | 1/7 | 0/4 | 2/9 |
| Spinal abnormalities | 1/9 | 1/7 | 0/4 | 0/9 |
| Scoliosis | 2/9 | 1/7 | 0/4 | 2/9 |
| Other skeletal anomalies | 2/9 | 4/7 | 3/4 | 4/9 |
| Congenital heart defects | 1/9 | 1/7 | 2/4 | 3/9 |
| Genital abnormalities | 2/9 | 0/7 | 0/4 | 3/9 |
| Renal abnormalities | 0/9 | 0/7 | 2/4 | 1/9 |
a
Subjects 1–9 in this study.
b
Subjects 10–16 in this study.
c
Probands with SOX5-containing deletions reported in (Bahring et al., 1997; Glaser et al., 2003; Lu et al., 2009; Nagai et al., 1995; Stumm et al., 2007).
d
Probands with 12p12.1-containing deletions reported in (Boilly-Dartigalongue et al., 1985; Fryns et al., 1990; Magenis et al., 1981; Magnelli and Therman, 1975; Malpuech et al., 1975; Mayeda et al., 1974; Orye and Craen, 1975; Tenconi et al., 1975).