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-2-00002 | male | 3 | mos 46,XY/46,XY,r(2)(p25q37)/47,XY,r(2),+r(2)/45,XY,-2 | developmental delay, intellectual disability, dysmorphic facial features, cat-like cry, hypotonia, cannot walk and speak, external genital dysplasia.
| de novo |
cRC-1-00001 | female | 12 | 46,XX,r(1) | low birth weight, developmental delay, intellectual disability, speech delay, ambiguous genitalia | 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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