| 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
6
ALL
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There are 5 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-6-00029 | female | 1 | mos 46,XX,r(6)/46~47,XX,r(6)var/45,XX,-6, arr 6p25.3p25.1(255359_5695486)x1,6q27(170726737_170890108)x1 | developmental delay, microcephaly, dysmorphic facial features | de novo
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| cRC-6-00028 | male | 0 | mos 46,XY,r(6)[14]/46,XY,r(6)var[1]/45,XY,-6[15], arr 6p25.3p25.2(255350_2680637)x1,6q26q27(163050344_170890108)x1 | increased risk for down syndrome by prenatal screening, microcephaly | 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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| Summary |
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Figure.1 The frequency of symptoms in case(s)
of ring chromosome 6 |
Figure.2 The gender distribution in case(s) of ring
chromosome 6 |
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| The more summary of the chromosome is not available yet. |
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