Table 2.
The duplicated regions with the clinical manifestations in patients with the 15q24 duplication and the summary of the clinical features of the 10 patients with the 15q24 deletion
| 15q24 deletion | 15q24 duplications involving the minimal deletion critical region |
15q24 duplications not involving the minimal critical region |
|||
|---|---|---|---|---|---|
| Case 5 | Kiholm Lund et al. (2008) | Case 6 | Case 7 | ||
| Dup 15q24 (length) | 70.708–73.332 Mb (2.62 Mb) | 72.15–73.85 Mb (1.7 Mb) | 73.858–75.969 Mb (2.11 Mb) | 73.858–75.969 Mb (2.11 Mb) | |
| Inheritance | Unknown | Inherited from the father | Inherited from the mother | Inherited from the mother | |
| Age and gender | 15 years, male | 2 years, male | 3.5 years, male | 2 years, female | |
| Growth | |||||
| Short stature | 5/10 | Short stature | Normal growth | Normal growth | Normal growth |
| Microcephaly | 3/10 | – | – | – | – |
| IUGR | 3/10 | – | – | – | – |
| Obesity | 3/10 | – | – | – | – |
| Development delay | 10/10 | Mild MR | Delayed | Mildly delayed | Mildly delayed |
| Face | |||||
| High anterior hair line | 7/10 | – | Normal appearance | – | – |
| Facial asymmetry | 4/10 | – | – | – | – |
| Long face | 3/10 | Long face | – | Round face Flat occiput Plagiocephaly | Round face |
| Eye | |||||
| Broad medial eyebrows | 6/10 | – | – | – | – |
| Down-slanting palpebral fissures | 6/10 | Down-slanting palpebral fissures | Down-slanting palpebral fissures | – | – |
| Hypertelorism | 6/10 | – | Hypertelorism | Hypertelorism | Hypertelorism |
| Epicanthus | 4/10 | Epicanthus | Epicanthus | – | Epicanthus |
| Full puffy hooded eyelids | |||||
| Strabismus | 4/10 | – | Strabismus | – | – |
| Ptosis | Thick upper eyelid | ||||
| High arched eyebrows | |||||
| Nose | |||||
| Broad nasal base | 4/10 | High nasal base | Broad nasal bridge | Flat nasal bridge | Normal appearance |
| Mouth | |||||
| Long/smooth philtrum | 8/10 | Smooth philtrum | Smooth philtrum | Normal appearance | Normal appearance |
| Full lower lip | 5/10 | Full lower lip High arched palate Crowded teeth Retrognathia | Full lower lip Triangular mouth | ||
| Ear | |||||
| Malformation | 7/10 | Normal appearance | Low set posteriorly rotated ears | Prominent ears | Prominent ears |
| Ear tag | |||||
| Nervous system | |||||
| Hypotonia | 6/10 | Hypertonia | Hypertonia | Truncal hypotonia | Truncal hypotonia |
| Agenesis of corpus callosum on brain MRI | Lower extremities hypertonia | ||||
| Genital | 7/10 | Normal | Hypospadias | Normal | Normal |
| Skeletal | |||||
| Joint laxity | 6/10 | Decreased joint range of motion | Joint contractures | No abnormalities | No abnormalities |
| Digital | 10/10 | Broad thumbs | Overlapping fingers | Tapering fingers | Tapering fingers |
| Blunt finger tips | Overlapping fingers | ||||
| Hyperconvex nails | Hypoplastic nails | ||||
| Broad feet | Broad finger pads | ||||
| Other | Attention deficit hyperactivity disorder | Oligohydramnios | Recurrent sinusitis, bronchitis, and otitis | Gastro-esophageal disease | |
| Asperger syndrome | Low posterior hairline | ||||