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A Case Database of Human Ring Chromosome
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CHROMOSOME SPECIFIC CASES

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Constitutional Ring
  
Simple/Complex Ring
1 2 3 4
5 6 7 8
9 10 11 12
13 14 15 16
17 18 19 20
21 22 X Y

Compound Ring
 
Somatic Ring
  
Simple ring
Complex ring
Compound ring
Double minute
Giant ring
 

 

Cases of Ring Chromosome

There are 112 cases now, 10 cases/page. Page.12/12  Pages: [|<] [<] [8] [9] [10] [11] [12]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-2-00002male3mos 46,XY/46,XY,r(2)(p25q37)/47,XY,r(2),+r(2)/45,XY,-2developmental delay, intellectual disability, dysmorphic facial features, cat-like cry, hypotonia, cannot walk and speak, external genital dysplasia. de novo
cRC-1-00001female1246,XX,r(1)low birth weight, developmental delay, intellectual disability, speech delay, ambiguous genitaliade novo

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Summary
Figure.1 The relative frequency of ring chromosome cases (the number in bracket is the count of the chromosome)

 

 

Figure.2 The frequency of symptoms in   112  ring chromosome cases

Figure.3 The gender distribution in   112  ring chromosome cases

 
Figure.4 The age distribution of  112  ring chromosome cases
 
The more summary of the chromosome is not available yet.
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