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Table 1 Overview on the number of carriers of upd(6)mat, upd(16)mat, TS14 and upd(20)mat patients from the literature and clinical data on our patients with 14q32 epimutation

From: Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

Congenital ID upd(6)mat SRS TS14 upd(16)mata upd(20)mat Patient with 14q32 hypomethylation
Reference available on request [24] [7] available on request [9]  
Number of patients 13 20 44 51 72 15  
Cases with chromosomal disturbances 4/9     40/44 3/12  
Cases with normal phenotype 1     <10c   
Major Clinical and Overlapping Findings
 IUGR (<P10) 53.8 % (7/13) 70 % 82 % 87 % 74 % (53/72) 100 % yes
 PNGR (<P10) 3bcases 65 % 57 % 79 % 1 case 100 % yes
 Asymmetry 1 case 30 % 68 % 4 %    no
 Relative macrocephaly 1 case 90 % 70 % 56 %   1 case no
 Relative macrocephaly 1 case     1 case   no
 Hypotonia 1 case 45 % (n = 143) [25] 93 %   1 case yes
 Abdominal wall defects 1 case rare    1 case   no
 Glycemic disorder   hypoglycemia:
24 %
hypoglycemia:
19 %; diabetes type 2 reported in later life
hypoglycemia, diabetes type 2 reported in later life hypoglycemia:
1 case
  yes
 Precocious puberty   frequent frequent 86 %    too young
 Mental retardation   global delay:
65 %
global delay:
20 %
39 % 1 case   
 Speech delay   50 % 39 %     yes
 Motor delay 2 cases 50 % (7/14) 76 % (26/34)     yes
 Behaviour   20 % 9 %     
 Feeding difficulties 1 case 90 % 84 % 43 %   7 cases yes
 Seizures 1 case     1 case 1 case  
 Excessive Sweating   75 % 64 %     
 Scoliosis   5 % 9 % 23 %   1 case  
 Adipostas    reported in later life [26] yes    
 Dysmorphic/typical facial gestalt 1 case triangular face   6 cases mild yes
 Dlinodactyly/finger abnormalities   45 % 75 %    5 cases yes
 Ear abnormalities   low set posterior low set posterior     
 Otitis media   20 % 14 % 17.6 % (9/51)    
  1. athe majority of patients was identified prenatally, 13 ended as therapeutic abortions. Data on postnatal development are scarcely available. bamong them a patient with CUL7 mutation – 3 M syndrome; c[23]