| 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： 43 cases were found about "dysmorphic facial features", 10 cases/page. Page. 1/5
Pages： [1] [2] [3] [4] [5]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| 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 |
| 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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| cRC-9-00031 | male | 0 | mos 46,XY,r(9)(p23p34)[96]/45~47,r(9)var[9], arr 9p24.3p23(174201-9721761)x1 | developmental delay, dysmorphic facial features, ambiguous genitalia | de novo
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| cRC-13-00033 | female | 14 | mos 46,XX,r(13)[18]/46~47,XX,r(13)var[5]/45,XX,-13[7] | developmental delay, intellectual disability, dysmorphic facial features, obesity after age 10 | De novo |
| 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-13-00035 | female | 12 | mos 46,XX,r(13)[81]/46~47,XX,r(13)var[3]/45,XX,-13[6] | developmental delay, intellectual disability, dysmorphic facial features, turner-like webbed neck | NT |
| 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-13-00039 | female | 0 | mos 46,XX,r(13)[.59]/46,XX,r(13)var[.38]/45,XX,-13[.03] | intrauterine growth restriction, low birth weight, dysmorphic facial features | n/a |
| 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-8-00012 | male | 4 | 46,XY,r(8)(p23q24) | developmental delay, intellectual disability, speech difficulty, dysmorphic facial features, cryptorchidism | de novo
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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"dysmorphic facial features"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "dysmorphic facial features" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " dysmorphic facial features ". |
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| The more summary of the chromosome is not available yet. |
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