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Table 3 The clinical features of segment UPD(7q) mat

From: Mosaic UPD(7q)mat in a patient with silver Russell syndrome

  Hannula et al. Reboul et al. Eggermann et al. Eggermann et al. Begemann et al. Total Our patient
UPD region D7S686 to qter D7S2429 to qter D7S663 to qter D7S2429 to qter chr7: 127,240,160-159,138,663 N = 6 chr7: 65,350,058-159,138,663 mos
Evaluation analysis Microsatellite Microsatellite Microsatellite Microsatellite microsatellite   Array, microsatellite
gender F M F M F 3F/2M male
SGA + + + + + 5/5 N
gestational age(weeks) 37.5 27 3 weeks before term 3 weeks before term 39   term
birth weight(g) 1510(−4.3SD) 600 (−3.5 SD) 2800 (−0.45SD) 2180 (−2.28 SD) 2410 (−2.74 SD)   1910
length(cm) 40 (−4.9SD) N 46 (−1.16 SD) 45 (−1.97 SD) 44 (−3.7 SD)   N
head circumference 47 (0.2SD) N N 32 (−1.34 SD) 32 (− 2.77 SD)   N
age at evaluation(years) 1.35 33 months 5.3 1 4/12 3 2/12   6 7/12
weight(kg) 6.95 9.4 (−3.5 SD) N 6.7 (−4.12 SD) 10.5 (BMI: 14.36)   9.5 (~ − 6SD)
height (cm) 71.5 (−2.9SD) 82 (−3.5 SD) 99.5 (−2.86SD) 73 (−3.60 SD) 85.5 (SD −3.09)   91.9 (~ − 6 SD)
feeding difficulties + + 2/5
relative macrocephaly + + + + + 5/5 +
triangular face + + + + + 5/5 +
protruding forehead + + + 3/5 +
asymmetry + 1/5
clinodactyly of the fifth fingers fingers/toes + + + 3/5 fifth toe buckling
irregularly teeth + 1/5 +
downturned mouth corners + + 2/5
ear anomalies + large prominent ears 2/5
development delay + + 2/5
other dysmorphic features slender in appearance single cafe’-au-lait spot broad nasal bridge, ridge and tip, broad lips, retrognathia, epicanthal folds   slender in appearance
  1. F female, M male, N not apply