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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