| 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
ALL
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SEARCH RESULTS： 10 cases were found about "epilepsy", 10 cases/page. Page. 1/1
Pages： [1]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-13-00034 | male | 0 | mos 46,XY,r(13)(p13q34)[81]/46~47,XY,r(13)var[13]/45,XY,-13[6] | developmental delay, intellectual disability, dq: 46, microcephaly, cannot hold head, dysmorphic facial features, epilepsy | De novo |
| cRC-13-00037 | male | 0 | mos 46,XX,r(13)(p13q34)[81]/46~47,XX,r(13)var[13]/45,XX,-13[6] | developmental delay, intellectual disability, microcephaly, hypotonia, dysmorphic facial features, epilepsy | Parental denial
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| cRC-14-00040 | male | 1 | mos 46,XY,r(14)(p12q32)[88],46,XY,r(14)var[2]/45,XY,-14[10] | developmental delay, intellectual disability, cannot sit alone, cryptorchidism, dysmorphic facial features, epilepsy | De novo |
| cRC-14-00023 | female | 1 | 46,XX,r(14)(p13q32) | epilepsy, developmental delay, dysmorphic facial features, congenital heart defect, brain anomaly by mri, digital anomalies | n/a
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| cRC-14-00041 | female | 1 | mos 46,XX,r(14)/45,XX,-14 | epilepsy, developmental delay, intellectual disability, microcephaly, dysmorphic facial features | De novo |
| cRC-14-00042 | male | 1 | 46,XY,r(14) | epilepsy, cannot hold head, microcephaly, hypotonia, dysmorphic facial features | De novo |
| cRC-14-00043 | male | 2 | mos 46,XX,r(14)(p11.2q32.3)[39]/45,XX,-14[11] | epilepsy, developmental delay, dq: 65, dysmorphic facial features | De novo |
| cRC-14-00044 | male | 5 | 46,XY,r(14) | epilepsy, fever, frequent lung infections, dysmorphic facial features, slow reaction | Parental denial
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| cRC-14-00045 | male | 1 | 46,XY,r(14)(p11q32) | developmental delay, epilepsy, hypotonia, dysmorphic facial features | Parental denial
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| cRC-20-00058 | female | 12 | mos 46,XX[36]/46,XX,r(20)(p13q13.3)[14] | growth delay (bone age 9-10 year), learning difficulty in elementary school, epilepsy noted at age 6 year | Parental denial
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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"epilepsy"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "epilepsy" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " epilepsy ". |
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| The more summary of the chromosome is not available yet. |
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