| 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-21-00062 | male | 31 | 46,XY,r(21) | infertility, aspermia | n/a
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| cRC-21-00061 | female | 30 | mos 46,XX,r(21)[166]/46,XX,r(21)var[64]/45,XX,-21[20], arr 21q22.2q22.3(40218429_43457934)x1~2,21q22.3(43457934_48093361)x1 | infertility, amenorrhea, small uterine by ultrasound | Parental n/a, no family history
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| cRC-21-00060 | female | 26 | mos 46,XX,r(21)(p11q22)[91]/46,XX,r(21)var[4]/45,XX,-21[5] | infertility | Parental n/a, no family history
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| cRC-21-00059 | male | 2 | mos 46,XY,r(21)(p11q22.3)[91]/46,XY,r(21)var[5]/45,XY,-21[4] | developmental delay, speech difficulty, delay in walking, dysmorphic facial features | De novo |
| cRC-20-00058 | female | 12 | mos 46,XX[36]/46,XX,r(20)(p13q13.3)[14] | growth delay (bone age 9-10 year), learning difficulty in elementary school, epilepsy noted at age 6 year | Parental denial
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| cRC-18-00057 | female | 0 | 46,XX,r(18)(p11.3q23) | developmental delay, slow reflex
| n/a
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| cRC-18-00056 | female | 6 | 46,XX,r(18) | developmental delay, hyperactivity, speech difficulty, growth hormone deficiency, dysmorphic facial features, effective growth hormone treatment for 16m and 7m | De novo |
| cRC-18-00055 | female | 4 | mos 46,XY,r(18)(p11q23)[31]/46,XY,r(18)var[8]/45,XY,-18[10] | developmental delay, intellectual disability, speech delay, difficulty in walking | De novo |
| cRC-18-00054 | male | 0 | 46,XY,r(18) | developmental delay, intellectual disability, dysmorphic facial features, cannot flip, sit and catch | De novo |
| cRC-18-00053 | male | 6 | mos 46,XY,r(18)(p11q23)[92]/46,XY,r(18)var[8] | intellectual disability, microcephaly,
| De novo |
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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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