| 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
4
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-4-00098 | female | 0 | mos 46,XX[.84]/46,XX,r(4)(p16q22.3)[.12]/47,XX,r(4),+del(4)(q22.3)[.04] | amelia, dextracardia, asplenia, congenital short bowel | De novo |
| cRC-4-00026 | male | 1 | mos 46,XY,r(4)(p16q35)[52]/46~47,XY,r(4)var[8] | developmental delay, right side cryptorchidism, cannot flip
| Parental denial
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| cRC-4-00025 | female | 1 | mos 46,XX,r(4)[45]/46~47,XX,r(4)var[5], seq del(3)(q21.1q21.2):g.[chr3:122877023_124463837del],r(4)(p16.3q34.3):g.[chr4:pter::181914952_190796051del] | low birth weight, developmental delay, cannot sit
| 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 frequency of symptoms in case(s)
of ring chromosome 4 |
Figure.2 The gender distribution in case(s) of ring
chromosome 4 |
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| The more summary of the chromosome is not available yet. |
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