| 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-8-00012 | male | 4 | 46,XY,r(8)(p23q24) | developmental delay, intellectual disability, speech difficulty, dysmorphic facial features, cryptorchidism | de novo
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| cRC-8-00011 | male | 5 | 46,XY,r(8)(p23q24) | short stature, intellectual disability | de novo
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| cRC-6-00010 | female | 0 | mos 46,XX,r(6)[46]/47,XX,r(6)x2[6]/45,XX,-6[5] | developmental delay, hypotonia, cannot hold head, slow reaction, cerebral palsy, reduced brain white matter by ct. | de novo
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| cRC-6-00009 | female | 2 | mos 46,XX,r(6)(p24q26)[22]/46,XX[8] | developmental delay, microcephaly, intellectual disability, iq67, hyperactivity, intermediate speech difficulty | de novo |
| cRC-6-00008 | male | 7 | 46,XY,r(6)(p25q27) | developmental delay, intellectual disability, frequent respiratory infections, walking and speech difficulty, hypotonia, dysmorphic facial features | de novo
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| cRC-5-00007 | female | 2 | 46,XX,r(5) | low birth weight, intellectual disability, developmental delay, microcephaly, heart defect, dysmorphic facial feature | Parental denial |
| cRC-5-00006 | female | 1 | 46,XX,r(5) | low birth weight, developmental delay, speech delay, need support to walk | de novo
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| cRC-5-00005 | male | 3 | 46,XX,r(5) | low birth weight, developmental delay, hypotonia, microcephaly, down-syndrome like face, no testis | de novo
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| cRC-4-00004 | male | 23 | mos 46,XY,r(4)(p16.3q35.2)[31]/45,XY,-4[3], arr[hg18] 4p16.3(57770_910354)x1 | wolf-hirschhorn syndrome like features, severe oligospermia, developmental delay, mild intellectual disability, microcephaly | de novo
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| cRC-4-00003 | male | 0 | 46,XX,r(4) | low birth weight, hypotonia, microcephaly, dysmorphic features, death after 13hr | 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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