Figure 1.
Summary of cytogenetic and family-level analysis of terminal 20q gain on derivative chromosome 22 in relatives with OAVS-related features. A. Illustration of the extra genetic material at the 20qter on the der (22) chromosome according to G-banding as well as subtelomere FISH using probes for 20qter and D22S1726. B. Family-level summary of individuals within the family carrying the rearrangement and exhibiting OAVS-related traits. Among 30 evaluated relatives, 15 had the rearrangement and five exhibited OAVS-related features. The duplicated interval and gene content, including whether MYT1 is involved are unproven and require chromosomal microarray, SNP-array, MLPA, or genome sequencing.
Table 1.
Deidentified Phenotype summary of carriers with OAVS-related features.
| Patient | Age | Sex | Auricular Anomalies | Facial Asymmetry | Ocular Findings | Vertebral Anomalies | Cardiac Defects | Other Features |
|---|---|---|---|---|---|---|---|---|
| 1 | 34 y | F | Bilateral preauricular tags, right microtia grade II | Hemifacial microsomia (right) | Epibulbar dermoid (right) | Cervical vertebral fusion C2–C3 | None | Hearing loss (right) |
| 2 | 28 y | M | Left preauricular tag, left microtia grade I | Mild hemifacial microsomia (left) | None | None | VSD (repaired) | Mandibular hypoplasia |
| 3 | 19 y | F | Bilateral preauricular tags | Minimal facial asymmetry | None | Hemivertebra T4 | None | None |
| 4 | 42 y | M | Right microtia grade III, aural atresia | Severe hemifacial microsomia (right) | Coloboma (right) | Cervical vertebral anomalies | None | Hearing loss (right), cleft palate |
| 5 | 15 y | F | Left preauricular tag | None | None | None | None | Hearing loss (right) |