| 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-14-00042 | male | 1 | 46,XY,r(14) | epilepsy, cannot hold head, microcephaly, hypotonia, dysmorphic facial features | De novo |
| cRC-14-00041 | female | 1 | mos 46,XX,r(14)/45,XX,-14 | epilepsy, developmental delay, intellectual disability, microcephaly, dysmorphic facial features | De novo |
| cRC-14-00040 | male | 1 | mos 46,XY,r(14)(p12q32)[88],46,XY,r(14)var[2]/45,XY,-14[10] | developmental delay, intellectual disability, cannot sit alone, cryptorchidism, dysmorphic facial features, epilepsy | De novo |
| cRC-13-00039 | female | 0 | mos 46,XX,r(13)[.59]/46,XX,r(13)var[.38]/45,XX,-13[.03] | intrauterine growth restriction, low birth weight, dysmorphic facial features | n/a |
| cRC-13-00038 | female | 30 | mos 46,XX,der (6)t(6:13)(p25;q14),r(13)(p13q14)/46,XX,der(6)t(6;13),dic r(13) | infertility, normal physical and mental appearance, normal external genitalia, referred by perinatal infant death at day 10, infant showed polydactyly, cleft lip, congenital heat defect | Parental n/a, no familial history of abortions
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| cRC-13-00037 | male | 0 | mos 46,XX,r(13)(p13q34)[81]/46~47,XX,r(13)var[13]/45,XX,-13[6] | developmental delay, intellectual disability, microcephaly, hypotonia, dysmorphic facial features, epilepsy | Parental denial
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| cRC-13-00036 | female | 7 | mos 46,XX,r(13)[91]/45,XX,-13[9] | developmental delay, intellectual disability, dysmorphic facial feature, microcephaly, speech difficulty | De novo |
| cRC-13-00035 | female | 12 | mos 46,XX,r(13)[81]/46~47,XX,r(13)var[3]/45,XX,-13[6] | developmental delay, intellectual disability, dysmorphic facial features, turner-like webbed neck | NT |
| cRC-13-00034 | male | 0 | mos 46,XY,r(13)(p13q34)[81]/46~47,XY,r(13)var[13]/45,XY,-13[6] | developmental delay, intellectual disability, dq: 46, microcephaly, cannot hold head, dysmorphic facial features, epilepsy | De novo |
| cRC-13-00033 | female | 14 | mos 46,XX,r(13)[18]/46~47,XX,r(13)var[5]/45,XX,-13[7] | developmental delay, intellectual disability, dysmorphic facial features, obesity after age 10 | 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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