Table 1.
Comparative overview of the clinical findings, according to the NH-CSS criteria, in the present case and in the six reported cases with segmental upd(7q)mat.
| NH-CSS CRITERIA | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sex | Disomic region extention | GA weeks | IUGR | SGA | Birth | PNGF | At evaluation | NH-CSS score | |||||||||||
| Weight gr (SD) | Length cm (SD) | OFC cm (SD) | Macro cephaly | PNGF | Age years | Weight gr (SD) | Height cm (SD) | OFC cm (SD) | Macro cephaly | Protruding forehead | Body asym | Feeding difficulties | |||||||
| Present case | F | 7q11.23-qter | 38 | – | − | 3.050 (−0.09) | 49 (−0.1) | 32.5 (−0.94) | – | + | 2.1 | 9.200 (−2.09) | 79.5 (−2.5) | 46.5 (−0.64) | +/– | + | – | + | 3/6 |
| Su et al., 2017 | M | 7q11-qter; Mosaic | at term | – | + | 1.910 (−3) | n.a. | n.a. | n.a | + | 6.5 | 9.500 (−6) | 91.9 (−6) | 49 (−1) | + | + | – | – | 3/6 |
| Eggermann et al., 2008 | F | 7q11.2-qter | 37 | – | – | 2.800 (−0.45) | 46 (−1.16) | n.a. | n.a | + | 5.3 | n.a. | 99.5 (−2.86) | n.a. | + | + | – | + | 3/6 |
| Eggermann et al., 2008 | M | 7q11.2-qter | 37 | – | + | 2.180 (−2.28) | 45 (−1.97) | 32 (−1.34) | – | + | 1.3 | 6.700 (−4.12) | 73 (−3.6) | 45 (−2.26) | + | – | – | + | 3/6 |
| Reboul et al., 2006 | M | 7q21-qter; Mosaic | 27 | + | + | 600 (−3.5) | n.a. | n.a. | n.a | + | 2.9 | 9400 (−3.5) | 82 (−3.5) | 47.5 (−2) | + | – | – | + | 3/6 |
| Hannula et al., 2001b | F | 7q31-qter | 37 + 5 | + | + | 1.510 (−4.3) | 40 (−4.9) | n.a. | n.a | + | 1.35 | 6.950 (−22%*) | 71.5 (−2.9) | 47 (−0.2) | + | + | – | + | 4/6 |
| Begemann et al., 2012 | M | 7q32-qter | 39 + 5 | + | + | 2.410 (−2.74) | 44 (−3.7) | 32 (−2.77) | – | + | 3.2 | 10.500 | 85.5 (−3.09) | 46 (−3.51) | – | + | – | + | 4/6 |
| Total | 3/7 | 5/7 | 0/3 | 7/7 | 6/7 | 5/7 | 0 | 6/7 | |||||||||||
GA, gestational age; IUGR, intrauterine growth restriction; SGA, small for gestational age; OFC, occipital frontal circumference; PNGF, post natal growth failure; Body asym, body asymmetry; SD, standard deviation;.n.a, not available.
*
relative to median weight for height.