Table 1.
Comparison of phenotypic features among studies.
| Present case | Ergun et al., 2004 [9] | Bonaglia et al., 2005 [10] | Wheeler, 2010 [11] | Concolino et al., 2012 [2] | Hilger et al., 2013 [12] | Rezek et al., 2014 [3] | Farcas et al., 2019 [13] | Lin et al., 2021 [14] | Sun et al., 2021 [15] | Total of cases with phenotype | ||||
| Index case | Mother | Case 1 | Case 2 | |||||||||||
| q24.13-q24.3 | q24.13-q24.3 | q22.3~q23-qter. | 8q24.3 | 8q23.3-q24.1 | 8q22.2-q24.2 | 8q24.3 | q23.3–q24.1 | q24.12-q24.3 | q24.12q24.3 | q24.12q24.3 | q24.3 | |||
| invdup(8) | invdup(8) | t(1;8) | invdup(8) | dup(8) | dup(8) | dup(8) | t(8;22) | dup del(8) | dup (8) x6~7 | dup (8) x6~7 | t(8;21) | |||
| GRCh38/hg38 | GRCh38/hg38 | NA | NA | NA | NCBI36/hg18 | NCBI36/hg18 | GRCh37/hg19 | GRCh37/hg19 | GRCh37/hg19 | GRCh37/hg19 | NA | |||
| 125385074–142496610 | 125385074–142496610 | NA | NA | 116147673–129419458 | 100338614–145464363 | 145012210–145132100 | 116147673–129419458 | 119488147–145984903 | 119328435–146295771 | 119261902–146295771 | 140238896–14629577 | |||
| Inheritance | Maternal | Unknown | de novo | de novo | Unknown | de novo | de novo | Maternal # | de novo | de novo | de novo | Paternal ## | ||
| Growth delay | - | - | + | + | - | + | NA | NA | NA | NA | NA | + | 4 | |
| Low weight | - | - | + | + | - | + | NA | NA | NA | NA | NA | + | 4 | |
| Short stature | - | - | - | + | - | + | NA | NA | NA | NA | NA | + | 3 | |
| Head and neck | Microcephaly | + | - | + | - | + | - | NA | NA | + | NA | NA | - | 4 |
| Prominent fronthead | - | - | + | NA | NA | + | NA | + | + | NA | NA | - | 4 | |
| Facial features | Hypertelorism | - | - | + | NA | + | + | NA | + | + | NA | NA | + | 6 |
| Palpebral slant alteration | - | Down | Up | NA | Down | NA | NA | NA | NA | NA | NA | Down | 4 | |
| Philtrum alterations | - | - | NA | Short | Short | Long | NA | NA | NA | NA | NA | Long or short * | 4 | |
| Microretrognathia | - | - | NA | NA | + | + | NA | NA | - | NA | NA | + | 3 | |
| Cleft lip/palate | - | + | - | NA | NA | NA | NA | + | + | NA | NA | - | 3 | |
| High palate | - | - | NA | + | NA | + | NA | NA | + | NA | NA | - | 3 | |
| Nasal bridge alteration | - | - | Depressed | NA | NA | Large | NA | Shallow | Broad | NA | NA | Broad | 5 | |
| Large nose | - | - | NA | + | NA | NA | NA | + | NA | NA | NA | + | 3 | |
| Low-set ears | - | - | + | NA | + | + | NA | + | + | NA | NA | - | 5 | |
| Large ears | - | - | NA | + | NA | NA | NA | NA | NA | NA | NA | + | 2 | |
| Protruding ears | - | - | NA | NA | + | - | NA | NA | - | NA | NA | + | 2 | |
| Visual anomalies | - | - | NA | NA | + | + | NA | NA | - | NA | NA | + | 3 | |
| Limb anomalies | - | - | NA | + | + | + | NA | NA | + | NA | NA | - | 4 | |
| Skin anomalies | Hypertrichosis | + | - | NA | NA | + | - | NA | NA | NA | NA | NA | NA | 2 |
| Neurologic aspects | Hypotonia | - | - | NA | NA | + | - | NA | NA | - | NA | NA | - | 1 |
| Seizures/epilepsy | + | - | NA | + | NA | - | NA | + | NA | NA | NA | - | 3 | |
| Learning disability | + | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 2 | |
| Intelectual deficiency | + | - | + | + | + | + | NA | + | Unknown | NA | NA | + | 7 | |
| Motor delay | + | - | + | + | - | - | NA | + | NA | NA | NA | - | 4 | |
| Hearing loss | - | - | NA | NA | + | - | NA | NA | - | NA | NA | - | 1 | |
| Other systems | Heart defects | - | - | + | NA | + | + | + | NA | + | + | + | - | 7 |
| Skeletal abnormalities | - | - | - | Malar hypoplasia | NA | Flat occiput | Butterfly vertebra | NA | NA | NA | NA | Scoliosis | 4 | |
| Cryptorchidism | - | female | NA | female | female | + | + | female | female | NA | NA | - | 2 | |
| Anal imperforation | - | - | NA | NA | NA | NA | + | NA | + | NA | NA | + | 3 | |
| Hernia | - | - | Inguinal | NA | NA | Umbilical | NA | NA | NA | NA | NA | NA | 2 | |
* Text refers as short philtrum, but table as long; # Due to non balanced segregation of a translocation [46,XX,t(8;22)(p21.1;q22.3)]; ## Due to non balanced segregation of a translocation [46,XY,t(8;21)(q24.3;q22.3)].