| Sreekantaiahet al. 1999[8] | Wanget al. 2008[13] | Vetroet al. 2008[14] | Vera-Carbonellet al. 2009[15] | Moscaet al. 2011[16] | Izzoet al. 2012[17] | Our patient 2013 |  |
---|---|---|---|---|---|---|---|---|
Deletion | 5p15.33p15.3 | 5p15.33p15.31 | 5p15.33p14.1 | 5p15.33p14.2 | 5p15.33p15.3 | 5p15.33 | 5p15.33p15.31 | Deletion |
Size | 9.9Â Mb | 6.9Â Mb | 25Â Mb | 24.34Â Mb | 6.6Â Mb | 870Â kb | 6.3Â Mb | Size |
Duplication/inversion | 5p15.3p14 | 5p15.31p14.3 | 5p14.1p11 | 5p14.2p13.1 with duplication to 5p12 | 5p15.31 | 5p15.33p13.1 | 5p15.31p13.2 | Duplication/inversion |
Size | 10Â Mb | 13Â Mb | 20.3Â Mb | 20.72Â Mb | 2.3Â Mb | 40.5Â Mb | 29.7Â Mb | Size |
Heredity | De novo | De novo | De novo | De novo | De novo | de novo | De novo | Heredity |
Age of the patient | 4Â years | 6Â years | prenatal | Newborn | Prenatal | Prenatal | Newborn | Age of the patient |
Gender | F | M | M | F | M | Â | F | Gender |
Pregnancy/Birth | Normal | Premature | Termination | 39Â weeks | Termination | Termination | Premature | Pregnancy/Birth |
Trisomy 5p features | Â | Â | Â | Â | Â | Â | Â | Cri-du-chat features |
Head | Â | Â | Â | Â | Â | Â | Â | Head |
Dolichocephaly | Â | Â | + | Â | Â | Â | + | Â |
Macrocephaly | Â | Â | Â | Â | Â | Â | + | Â |
Hypertelorism | Â | Â | hypo- | + | + | Â | + | Hypertelorism |
Microretrognathia | Â | Â | + | + | + | Â | + | Microretrognathia |
Ears | Â | Â | Â | Â | Â | Â | Â | Ears |
Low-set ears | Â | Â | + | + | Â | + | + | Low-set ears |
 |  | + |  |  |  |  | + | Preauricular skin tags |
Dysplastic ears | Â | Â | + | Â | + (left) | Â | + (left) | Â |
Nose | Â | Â | Â | Â | Â | Â | Â | Nose |
Broad nasal bridge | Â | Â | Â | + | Â | Â | + | Broad nasal bridge |
Eyes | Â | Â | Â | Â | Â | Â | Â | Eyes |
Epicanthal folds | Â | Â | Â | Â | Â | Â | + | Epicanthal folds |
Strabismus | + | Â | Â | Â | Â | Â | + | Â |
Heart | Â | Â | Â | Â | Â | Â | Â | Heart |
CHD | Â | Â | + | + | Â | Â | + | CHD |
Neurological | Â | Â | Â | Â | Â | Â | Â | Neurological |
Developmental delay | + | + | Â | Â | Â | Â | + | Developmental delay |
Hypotonia | Â | + | Â | + | Â | Â | + | Hypotonia |
Cry | Â | Â | Â | Â | Â | Â | Â | Cry |
 | + |  |  | + |  |  | + | High-pitched cry |
Others | Â | Â | Â | Â | Â | Â | Â | Others |
Feeding problems | Â | Â | Â | + | Â | Â | + | Â |
Failure to thrive | Â | + | Â | + | Â | Â | + | Â |