Table 1.
Clinical characteristics of previously reported cases with overlapping deletions
| Characteristics | Case |
|||||
|---|---|---|---|---|---|---|
| our case | 248943 | 258176 | 284462 | 293473 | 253934 | |
| Coordinates of reported deletions (hg19) | chr3: 45,881,062–48,009,576 | chr3: 45,773,561–48,068,283 | chr3: 44,251,270–47,936,671 | chr3: 46,852,723–50,824,570 | chr3: 42,167,061–46,303,826 | chr3: 42,671,667–47,995,168 |
| Chromosome band | 3p21.31 | 3p21.31 | 3p21.31 | 3p21.31p21.2 | 3p22.1p21.31 | 3p22.1p21.31 |
| Gender | M | F | M | F | M | M |
| Developmental delay | + | – | – | – | + | – |
| Speech delay | + | + | – | – | – | – |
| Intellectual disability | + | + | + | – | – | – |
| Autism | + | – | + | – | – | – |
| Craniofacial characteristics | ||||||
| Prominent forehead | – | – | + | – | – | – |
| Hypertelorism | + | – | – | + | – | + |
| Downslanting | ||||||
| palpebral fissure | + | – | + | – | – | – |
| Nose | bulbous tip | – | – | – | – | depressed nasal bridge |
| Ears | low-set | – | – | low-set, posteriorly rotated ears | – | low-set, abnormal external ear |
| Palate | – | – | – | – | – | |
| Other | ptosis | cleft palate, blepharophimosis, micrognathia | ||||
| Cardiovascular characteristics | – | – | – | transposition of great arteries, atrial septum defect | – | hypoplastic left heart |
| Hypotonia | + | + | – | – | – | – |
| Other | clinodactyly of the 5th finger | clinodactyly of the 5th finger | visual impairment | anal atresia | – | hydrocephalus, supernumerary ribs, renal hypoplasia, hypospadias, abnormality of the sacrum, anal atresia |
M = Male; F = female; + = present; - = not reported.