Table 1 Clinical findings in patients with deletions of the chromosome 4q34qter and 4q35qter
Reference | Present case | Lin et al. [15] case 4 | Vogt et al. [16] case 4 | González et al. [17] | Rossi et al. [5] case 2 | Descartes et al. [18] | Descartes et al. [18] | Caliebe et al. [19] | Tsai et al. [4] | Vona et al. [2] | Youngs et al. [7] |
|---|---|---|---|---|---|---|---|---|---|---|---|
Deletion | 4q34.1 | 4q34 | 4q34 | 4q34 | 4q34.1 | 4q34.2 | 4q34.2 | 4q34.2 | 4q34.2 | 4q35.1q35.2 | 4q35.2 |
Reported assembly | ND | HAND2 | ND | hg18 174,685,919-191,121,195 | ND | ND | ND | ND | GRCh37/hg19 184,020,463-190,993,669 | GRCh37/hg19 187,470,000-188,660,000 | |
GRCh38/hg38 | 171,135,044-190,036,318 | 173,528,193-189,963,046 | 183,099,257-190,075,799 | 186,548,846-187,738,846 | |||||||
Etiology | de novo | ND | ND | ND | de novo | mat | mat | de novo | de novo | de novo | ND |
Sex | F | M | aF | M | F | bM | bM | M | cM | dM | M |
Loss (Mb) | 18.9 | ND | ND | ND | 16.4 | ND | ND | ND | ND | 6.9 | 1.2 |
Facial dysmorphism | + | + | − | + | + | + | + | + | − | + | + |
Micro/retrognatia | + | − | − | − | + | − | − | − | − | − | − |
Prominent forehead | − | + | − | + | − | + | + | − | − | − | − |
UPF | + | + | − | − | − | + | − | − | − | − | − |
Nistagmus | − | + | − | − | + | − | + | − | − | − | − |
PR/LE | + | − | − | − | − | − | + | − | − | − | − |
Nasal anomalies | + | + | − | − | + | + | + | + | + | − | + |
Thin lips | + | − | − | − | − | + | + | + | − | − | + |
High palate | + | + | − | − | − | + | + | − | + | + | + |
Digital anomalies | + | + | + | + | + | − | − | − | + | − | + |
Heart anomalies | − | − | + | − | + | − | − | − | + | + | + |
CD/Hemorrhages | + | − | + | − | − | − | − | − | − | + | − |
GA | + | − | − | + | + | − | − | + | − | + | − |
Growth retardation | − | + | − | − | + | + | − | − | − | − | − |
Psychomotor delay | + | + | + | + | + | + | − | + | + | + | + |
Mental disability | + | + | − | + | + | − | + | + | + | − | + |
PRS | − | − | − | − | + | − | − | − | − | − | − |