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Table 2 Phenotypical comparison between patients with PCNVs and H19-hypo or UPD(7)mat

From: Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

  Patients with PCNVs in this study Previous reports P value
  SRS-compatible SRS-like Total H19-hypo UPD(7)mat PCNV vs. H19-hypo PCNV vs. UPD(7)mat
SGAa 3/3 (100%) 2/2 (100%) 5/5 (100%) 43/43 (100%) ・・・ 9/9 (100%) ・・・ 1.0000 1.0000
Postnatal growth failureb, c 2/2 (100%) 2/2 (100%) 4/4 (100%) 29/35 (83%) ・・・ 8/9 (89%) ・・・ 0.6020 1.0000
Relative macrocephaly at birthd 1/3 (33%) 2/2 (100%) 3/5 (60%) 29/29 (100%) ・・・ 7/9 (78%) ・・・ 0.0178 0.5804
Protruding forehead 3/3 (100%) 0/2 (0%) 3/5 (60%) 31/37 (84%) ・・・ 7/9 (78%) ・・・ 0.2368 0.5804
Body asymmetry 1/3 (33%) 0/2 (0%) 1/5 (20%) 30/37 (81%) ・・・ 3/9 (33%) ・・・ 0.0126 1.0000
Feeding difficulties and/or low BMI 3/3 (100%) 0/2 (0%) 3/5 (60%) 16/34 (47%) ・・・ 6/9 (67%) ・・・ 0.6614 1.0000
Congenital heart disease 2/3 (67%) 0/2 (0%) 2/5 (40%) ・・・ 8/145 (6%)e ・・・ 0/17 (0%)e 0.0361 0.0433
Motor developmental delay 2/3 (67%) 2/2 (100%) 4/5 (80%) 18/37 (49%)e ・・・ 6/9 (67%)e ・・・ 0.3465 1.0000
Speech delay 3/3 (100%) 2/2 (100%) 5/5 (100%) 8/31 (26%)e ・・・ 6/9 (67%)e ・・・ 0.0034 0.2582
Reference     Fuke T, et al. [9] Ghanim M, et al. [29] Fuke T, et al. [9] Ghanim M, et al. [29]   
  1. PCNV pathogenic copy number variation, H19-hypo hypomethylation of the H19-differentially methylated region at the 11p15 imprinted region, UPD(7)mat maternal uniparental disomy chromosome 7, SRS Silver-Russell syndrome, SGA small for gestational age, BMI body mass index
  2. aBirth length and/or birth weight ≤–2 standard deviation score (SDS) of the sex- and the gestational age-matched Japanese reference data (http://jspe.umin.jp/medical/keisan.html)
  3. bHeight at 24 ± 1 months ≤ –2 SDS of the sex- and the age-matched Japanese reference data (http://jspe.umin.jp/medical/keisan.html)
  4. cIf we did not get information at 24 ± 1 months, we used the data at the nearest measure available older than 25 months
  5. dHead circumference at birth ≥1.5 SDS above birth length and/or weight SDS
  6. eIt is not clear that echocardiography and tests for intelligence quotient or developmental quotient were performed in all patients in these previous reports
  7. Significant P values (<0.05) are italicized