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A Case Database of Human Ring Chromosome
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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.1/12  Pages: [1] [2] [3] [4] [5] [>] [>|]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-Y-00116male38mos 45,X[9]/46,X,r(Y)[11].rsa(SRY+)infertility, azoospermia, short stature, small testesDe novo
cRC-Y-00115male0mos 46,X,r(Y)(p11.31q11.)[8]/45,XY[16].ish(SRY+,DYZ3+,DYZ1-,Yqter-)continue pregnancy with delivery of a normal male babyn/a
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-22-00111female0mos 46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)[11]/45,XX-22[7]ultrasound showed small for gestational age, ventricular septal defect, termination of pregnancyn/a
cRC-22-00110male046,XY,r(22)(p13q13)borderline ventriculomegaly by ultrasound, termination of pregnancy, stillborn fetus with no phenotypic abnormalitiesn/a
cRC-21-00109male0mos 46,XY,r(21)[15]/45,XY,-21[5], arr 21q21.1q21.2(21495262_23580815)x1,21q22.3(41887412_46914715)x1abnormal prenatal ultrasound findings: intrauterine growth restriction, dolichocephaly, prominent forehead and nasal bridge, micrognathia, termination of pregnancyDe novo
cRC-20-00108male8r(20) (pending online)n/an/a
cRC-18-00000male0mos 46,XY,r(18)(p11.21q21.2)[81]/46,XY,idic r(18)/45,XY,-18[3]/46,XY[13], arr 18p11.32p11.21(0_14941330)x1,18q21.2q23(46533430_76117153)x1ventriculomegaly by ultrasound, microcephaly, dysmorphic facial features, simian crease, broad hands, tapered fingers, clubfeet, micropenis, hypotonia, ventricular septal defectn/a

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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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