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
2
ALL
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There are 3 cases now, 10 cases/page. Page.1/1
Pages: [1]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-2-00096 | male | 0 | 46,XY,r(2)(p25.3q37.3), arr 2p25.3(0-3327081)x1,2q37.3(238633185-243055144)x1 | intrauterine growth restriction, microcephaly, and lissencephaly by ultrasound | De novo |
cRC-2-00024 | male | 19 | 46,XY,r(2)(p25q37) | intellectual disability, microcephaly, dysmorphic facial features, external genital dysplasia | n/a
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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 |
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Summary |
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Figure.1 The frequency of symptoms in case(s)
of ring chromosome 2 |
Figure.2 The gender distribution in case(s) of ring
chromosome 2 |
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The more summary of the chromosome is not available yet. |
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