| Constitutional Ring |
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| Somatic Ring |
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| Simple ring
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| Complex ring
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| Compound ring
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| Double minute
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| Giant ring
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Cases of Ring Chromosome
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-Y-00116 | male | 38 | mos 45,X[9]/46,X,r(Y)[11].rsa(SRY+) | infertility, azoospermia, short stature, small testes | De novo |
| cRC-Y-00115 | male | 0 | mos 46,X,r(Y)(p11.31q11.)[8]/45,XY[16].ish(SRY+,DYZ3+,DYZ1-,Yqter-) | continue pregnancy with delivery of a normal male baby | n/a |
| cRC-X-00114 | female | 13 | mos 45,X/46,X,r(X) | kabuki make-up syndrome, dysmorphic facial features, intellectual disability, skeletal abnormalities, unusual dermatologic patterns, short stature, delayed puberty | n/a |
| cRC-X-00113 | female | 0 | mos 45,X[89]/46,X,r(X)(p22q25)[11] | n/a | n/a |
| cRC-X-00112 | female | 13 | mos 46,XX[20]/46,r(X)(p22q22)[80] | short stature, developmental delay, intellectual disability, iq;66 | n/a |
| cRC-22-00111 | female | 0 | mos 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 pregnancy | n/a |
| cRC-22-00110 | male | 0 | 46,XY,r(22)(p13q13) | borderline ventriculomegaly by ultrasound, termination of pregnancy, stillborn fetus with no phenotypic abnormalities | n/a |
| cRC-21-00109 | male | 0 | mos 46,XY,r(21)[15]/45,XY,-21[5], arr 21q21.1q21.2(21495262_23580815)x1,21q22.3(41887412_46914715)x1 | abnormal prenatal ultrasound findings: intrauterine growth restriction, dolichocephaly, prominent forehead and nasal bridge, micrognathia, termination of pregnancy | De novo |
| cRC-20-00108 | male | 8 | r(20) (pending online) | n/a | n/a |
| cRC-18-00000 | male | 0 | mos 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)x1 | ventriculomegaly by ultrasound, microcephaly, dysmorphic facial features, simian crease, broad hands, tapered fingers, clubfeet, micropenis, hypotonia, ventricular septal defect | n/a |
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| Summary |
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Figure.1 The relative frequency of ring chromosome
cases
(the number in bracket is the count of the chromosome) |
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| Figure.2 The frequency of symptoms
in 112 ring chromosome
cases |
Figure.3 The gender
distribution in 112 ring chromosome
cases |
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Figure.4 The
age distribution of 112 ring chromosome
cases |
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| The more summary of the chromosome is not available yet. |
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