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A Case Database of Human Ring Chromosome
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Constitutional Ring
  
Simple/Complex Ring
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Cases of Ring Chromosome X    ALL

There are 13 cases now, 10 cases/page. Page.1/2  Pages: [1] [2]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-X-00114female13mos 45,X/46,X,r(X)kabuki make-up syndrome, dysmorphic facial features, intellectual disability, skeletal abnormalities, unusual dermatologic patterns, short stature, delayed pubertyn/a
cRC-X-00113female0mos 45,X[89]/46,X,r(X)(p22q25)[11]n/an/a
cRC-X-00112female13mos 46,XX[20]/46,r(X)(p22q22)[80]short stature, developmental delay, intellectual disability, iq;66n/a
cRC-X-00095female0mos r(X)premature ovarian failuren/a
cRC-X-00079female0mos 46,X,r(X)/45,Xturner syndrome n/a
cRC-X-00078female25mos 45,X[37]/46,X,r(X)(p22.3q28)[3]short stature, amenorrhea, no other turner-like phenotypes, ultrasound no seen uterine, mild dysplasia in genatalian/a
cRC-X-00077female1246,X,r(X)/45,Xshort stature, turner-like phenotypes n/a
cRC-X-00076female946,X,r(X)/45,Xshort stature, turner-like phenotypes n/a
cRC-X-00075female1546,X,r(X)/45,Xshort stature, turner-like phenotypes n/a
cRC-X-00074female446,X,r(X)/45,Xshort stature, turner-like phenotypes n/a

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Summary

Figure.1 The frequency of symptoms in case(s) of ring chromosome  X

Figure.2 The gender distribution in case(s) of ring chromosome X

 
The more summary of the chromosome is not available yet.
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