Skip to main content

Table 2 Comparison of clinical phenotypes of the index patients with a partial trisomy 14q listed in order of the duplicated area of chromosome 14

From: Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Refduplicated fragmentSexAge at examinationDelayed developmentMental retardationTypical faceaCongenital heart defectTypical limbsbsize of the duplicationother means of the analysis
Coco R, et al. [16]Pter→q12~13F1 year+ +    
Simpson J, et al. [17]Pter→q12~13F8 months+ + +  
Laurent C, et al. [18]Pter→q12~13F3 months+ +    
Fryns JP, et al. [19]Pter→q12~13F7 years+moderate+ +  
Fried K, et al. [20]Pter→q21F19 months+++ +  
Raoul O, et al. [21]Pter→q22~23M3 years+ + +  
Turleau C, et al. [22]Pter→q22~23M1.5 years+ +    
Allderdice PW, et al. [23]Pter→q22~23F4 years+++    
Muldal S, et al. [24]Pter→q22~23F16 years+++ +  
Fawcett WA, et al. [25]Pter→q22~23F6 months+ +    
Yeatman GW, et al. [26]Pter→q22~23F12 years+ +    
Reiss JA, et al. [27]Pter→q24M10 months+ +++  
Lopez Pajares I, et al. [28]Pter→q24F2 months  +++ Q-banding
Short EM, et al. [29]Pter→q24M3 days+ +++  
Monfort S, et al. [30]centromere to 14q11.2M14 years+++  5.38 MbMLPA/aCGH
Smyk M, et al. [31]14q11.2M7 years ++  445 kbCGH
Our patientq11.2 → q21.3M (fetus)24 weeks  ++ 29.6 MbSNP-array
Wannenmacher B, et al. [5]q11.2 → q22.3M33 years+++ + STR/FISH
Ito M, et al. [32]q13 → q22M7 years+ +    
  1. a and b stand for the same contents listed in the Table 1