Table 1 Comparison of demographic and phenotypic characteristics of our patient with other subjects reported in previous studies
Cytogenetic results | Age | Sex | Parental studies | Growth | Dysmorphism | Central nervous system | Intellectual disability | Cardio-vascular | Gastro-intestinal | Renal /genitourinary | Hearing impairment | Reference | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Â | Â | Â | Â | IUGR | Post-natal growth retardation | Facial | Digital | Â | Â | Â | Â | Â | Â | Â |
4q del:121,148,089-144,769,263; 7q dup:152,510,685-153,363,598 | 1 y | M | – | + | + | + | + | + | + | + | + | – | The left hearing loss | Our patient. |
4q del:122,756,085-128,434,447 | 12 y | M | + |  | + | + | – | + | + | + | + | + | – | Hickey et al. [14] |
4q del:136,127,048 - 150,690,325 | 9 m | F |  |  | + | + | – | + | + | + | + | + |  | Duga et al. [15] |
4q del:111,310,828–130,503,896 | 3 d | F | – | – | – | + | + | – |  | + |  |  | – | Strehle et al. [13] |
4q del:113,517,078–130,278,522 | 2 y | M | – | – | + | + | + | + |  | – |  |  | – | |
4q del:127,979,585–140,587,349 | 33 y | F | Mother: inv. (9)p11q13 |  | + | + | + | + |  | + | + |  | – | |
4q del:184,046,156-190,901,117 | 8 y | M | – | – | + | + |  | – | – | + | – | + | Bilateral hearing impairment (60 dB) | Vona et al. [16] |
deletion 4q33 → q35 | 11 m | M |  | – | – | + | + |  |  |  |  |  | Mild bilateral conductive deafness | Calabrese et al. [17] |
7q del:148,472,027–157,265,994; dup:138,293,371–148,443,994 | 3 y | F | – | + | + | + | + | + | + | – | + | – | Bilateral hearing impairment (60 dB) | Pavone et al. [18] |
inv(7) (q22.1 q31.2) t (7;8) (q21.3 q22.1; q23.3 q24.12) | 5 y | F | – | – | – | + | + | + | + | + | – | – | Severe bilateral hearing impairment | Bernardini et al. [19] |