Table 1 Clinical findings in subjects with chromosome der(4) involving t(2;4)(q3;q3)
Reference | Rashidi-Nezhad et al., 2012 [2] | Ronzoni et al., 2015 [3] | Ronzoni et al., 2015 [3] | The present case |
|---|---|---|---|---|
Karyotype | 46,XY,der(4)t(2;4)(q34;q34)mat | 46,XY,der(4),t(2;4)(q35;q35)pat | 46,XX,der(4),t(2;4)(q35;q35)mat | 46,XY,der(4)t(2;4)(q34;q35.2)pat |
array comparative genomic hybridization | arr2q34-q37.3(209,778,861-242,706,291) x 3mat,arr4q34.2q35.2(177,717,642-191,220,565)x1mat. | arr2q35-q37.3(216,850,125-243,007,359) x3pat,4q35.1-q35.2(184,605,094–190,896,674)x1pat. | arr2q35-q37.3(216,850,125-243,007,359)x3mat,arr4q35.1-q35.2(184,605,094-190,896,674)x1mat. | arr2q34-q37.3(210,718,096-241,840,106)x3pat,arr4q35.2(188,545,291-190,036,305)x1pat. |
Trisomy | 2q34-q37.3 | 2q35-q37.3 | 2q35-q37.3 | 2q34-q37.3 |
Monosomy | 4q34.2-q35.2 | 4q35.1-q35.2 | 4q35.1-q35.2 | 4q35.2 |
Normal birth measurements | + | + | – | + |
Hypotony at birth | + | + | – | + |
Microcephaly | – | – | – | – |
Brachycephaly | + | + | – | + |
Prominent forehead | + | – | – | – |
Hypertelorism | – | – | – | + |
Down slanting palpebral fissures | – | – | – | + |
Ears abnormalities | + | + | + | + |
Sensorineural hearing loss | + | + | + | – |
Depressed nasal root | – | – | – | + |
Nasal anomalies | + | + | – | + |
Long philtrum | + | – | – | – |
Thin upper lip | + | – | – | + |
High palate | + | + | – | + |
Digital anomalies | + | + | + | + |
Heart Malformations | – | – | – | – |
Genitourinary anomalies | + | + | + | + |
Growth retardation | – | – | – | + |
Psychomotor delay | + | + | + | + |
Intellectual disability | + | + | + | + |