| 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
5
ALL
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There are 4 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-5-00027 | female | 0 | mos 46,XX,r(5)/46,XX | low birth weight, developmental delay, dysmorphic facial feature, cat-like cry, congenital heart defect by ultrasound | 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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| Summary |
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Figure.1 The frequency of symptoms in case(s)
of ring chromosome 5 |
Figure.2 The gender distribution in case(s) of ring
chromosome 5 |
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| The more summary of the chromosome is not available yet. |
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