Table 1. Clinical features in literature cases and probands with a LCRs3–4 10q22.3q23.3 deletion.
| UM10qDel-0122 | JHU10qDel-0122 | Case 126 | Case 226 | Case 326 | Case 426 | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Deletion position (Mb) | 81.6–89.1/89.2 | 81.6–89.1/89.3 | 81.6–88.9 | 81.6–88.9 | 81.6–88.9 | 81.6–88.9 | 81.6–88.9/89.1 | 81.6–88.9/89.1 | 81.4–89.1/89.3 | 81.6–88.6/89.1 | 81.6−89.1 |
| LCR involvement | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 | LCR3–LCR4 |
| Inheritance | Inherited mat | u | de novo | de novo | de novo | de novo | de novo | U | de novo | de novo | Inherited mat |
| Additional aberrations | Gain 2q36.3q36.3 | 47,XYY | |||||||||
| Developmental delay | + | + | + | Borderline | + | + | + | + | + | + | |
| Autism | + | − | + | − | − | − | − | ||||
| Speech delay | + | NA | + | + | + | − | + | + | + | + | |
| Hyperactivity | + | − | − | + | − | ||||||
| Seizures | − | − | − | − | + | − | − | ||||
| OFC | P97 | P97 at birth | >P97 | P10 | P3 | P10 | >P97 | P84 | |||
| Height | u | P10-P90 | P50 | P10 | <P3 | >P97 | P30 | ||||
| Cardiac evaluation | u | u | PDA | Normal | AVSD | Normal | Tricuspid regurgitation | Normal | |||
| Pulmonic regurgitation | |||||||||||
| Brain anomalies | u | Retrocerebellar cyst | u | − | u | u | Chiari I malformation | − | u | ||
| Small cerebellum | |||||||||||
| Wide ventricles | |||||||||||
| Dysmorphisms and congenital anomalies | Minor features | White forelock | Micrognathia Thin upper lip Mild hypertelorism Upsl palp fissures Earlobe creases Overfolding lateral pinna Arachnodactyly Joint hyperextensibility | Mild facial asymmetry Prognathia Downsl palp fissures Mild arachnodactyly Joint hyperextensibility | Hypertelorism Mild epicanthal folds Low-set ears Narrow ear canals Bilateral club feet Bilateral hearing loss | Frontal bossing Narrow philtrum Retrognathia Small mouth Downsl palp fissures Hypertelorism Small ears | Ptosis Low set small ears Hypotelorism Upsl palp fissures Broad thumbs Broad halluxes Breast aplasia | Telecanthus Low set ears Hypertelorism Anteverted nares Flat nasal bridge Large mouth | Dolichocephaly Low-set prominent ears Hypertelorism Epicanthal folds Flat nasal bridge Midface retraction High arched palate Maligned teeth Retroplaced thumbs | Long face Hypertelorism Radioulnar synostosis Scoliosis Kyphosis Pectus excavatum Café-au-lait spots | Low set ears Hypertelorism Broad base of nose Flat nasal bridge Shawl scrotum Club feet |
Abbreviations: AVSD, atrial ventricular septal defect; LCR, low-copy repeat; PDA, persistent ductus arteriosus; u, unknown; upsl/downsl palp fissures, upward/downslanting slanting palpebral fissures.
aBrain anomalies in the same person.