| 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： 99 cases were found about "peripheral blood", 10 cases/page. Page. 1/10
Pages： [1] [2] [3] [4] [5] [>] [>|]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-1-00001 | female | 12 | 46,XX,r(1) | low birth weight, developmental delay, intellectual disability, speech delay, ambiguous genitalia | de novo |
| 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-4-00003 | male | 0 | 46,XX,r(4) | low birth weight, hypotonia, microcephaly, dysmorphic features, death after 13hr | 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-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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| 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-5-00007 | female | 2 | 46,XX,r(5) | low birth weight, intellectual disability, developmental delay, microcephaly, heart defect, dysmorphic facial feature | Parental denial |
| 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-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-6-00010 | 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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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"peripheral blood"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "peripheral blood" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " peripheral blood ". |
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| The more summary of the chromosome is not available yet. |
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