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Table 2 Comparison of the major clinical findings in the known and suggested IDs, showing a broad clinical overlap between the different disorders

From: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Congenital ID TNDM upd(6)mat SRS BWS TS14 KOS14 PWS AS Precocious puberty upd(16)mat PHP upd(20)mat
Reference [18] Weba [83] [33] [43] [84] [52] [85] [61] Weba [86] [70]
number of patients 155 13 20 44 403 51 34 90    61 63 15
ID specific chromosome 6 6 7 11 11 14 14 15 15 15 16 20 20
clinical overlap with BWS SRS upd(6)mat, TS14, upd(16)mat, upd(20)mat TNDM, KOS14 SRS, PWS BWS TS14 AS infant   SRS, upd(6)mat, upd(20)mat   SRS, upd(6)mat, upd(16)mat
  Major clinical and overlapping findings
IUGR Yes 53.8 % (7/13) 70 % 82 %   87 % 1 Rare No   77 % (47/61)   100 %
prenatal overgrowth      Yes   58.8 % (20/34)   No    Yes  
placenta    Abnormality: 8 % Abnormality: 35 % Placentomegaly   Placentomegaly   No     
polyhydramion      Reported   97 % (33/34)   No     
PNGR Yes 33.3 % (2/6) 65 % 57 %   79 % 36.6 % (11/30) 63 % No   2 % (1/49)   100 %
overgrowth      Yes   (6.7 % (2/30)   No     
organomegaly      43.8 % (153/349)     No     
Asymmetry    30 % 68 % 33.3 % (126/378 4 %    No     
macroglossia 44 % (54/123)     94 % (379/403)     No    7 % (3/35)  
relative macrocephaly    90 % 70 %   56 %    No     1 case
relative microcephaly   1 case        >80 %     
hypotonia    45 % (n = 143) [87]   93 %   88 % <80 %     1 case
abdominal wall defects 21 % (24/114) 1 case Rare   62.3 % (250/401)   Omphalocele: 32.3 % (11(34)   No   1 case   
  Exomphalos: 56.8 % (142/250)   diastasis recti: 67.6 % (23/34)
glycemic disorder TNDM: 100 %   Hypoglycemia: 24 % Hypoglycemia: 19 %; diabetes type 2 reported in later life Hypoglycemia: 43.4 % (162/373) Hypoglycemia diabetes type 2 reported in later life   Diabetes type 2: 25 % no     
precocious puberty    Frequent Frequent Reported 86 %   4 % [88] No 100 %    
mental retardation    Global delay: 65 % Global delay: 20 %   39 %   100 % 100 %    3 %  
speech delay    50 % 39 %      No speech     
motor delay    50 % (7/14) 76 % (26/34)      100 %     
learning difficulties          100 %    33 %  
behaviour    20 % 9 %     70-90 % 100 %    9 %  
feeding difficulties    90 % 84 % Reported 43 %   78 % >80 %     7 cases
seizures   1 case        >80 %     1 case
excessive sweating    75 % 64 %      Increased sensitivity to heat     
scoliosis    5 % 9 %   23 %   40-80 % [88] <80 %     1 case
adipositas     Reported in later life [21]   yes   67 % <80 %     
dysmorphic/typical facial gestalt 18 % (21/114)   Triangular face    100 %   >80 %   14.2 % (6/49)   Mild
clinodactyly/finger abnormalities 8 % (9/116)   45 % 75 %          5 cases
ear abnormalities    Low set posterior Low set posterior 61.8 % (230/372)         
otitis media    20 % 14 %   17.6 % (9/51)        
hepatoblastoma      Reported   Reported       
cardiac anomalities 9 % (10/114)    9 % 5-10 % [39]         
  1. aSee http://www.fish.uniklinikum-jena.de/UPD.html (15.06.2015)