| 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： 19 cases were found about "hypotonia", 10 cases/page. Page. 1/2
Pages： [1] [2]
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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-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-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-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-6-00010 | 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-10-00032 | male | 0 | mos 46,XY,r(10)(p15q26)[33]/46,XY,r(10)var[5]/45,XY,-10[9] | developmental delay, congenital heart defect, cerebral palsy, cryptorchidism, hypotonia | de novo
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| 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-9-00014 | female | 0 | mos 46,XX,r(9)(p23q34)[36]/46,XX[14] | developmental delay, dysmorphic facial features, hypotonia | de novo
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| cRC-9-00015 | female | 0 | mos 46,XX,r(9)(p24q34)[96]/45,X,-9[4].ish r(9)(pter-,qter-) | developmental delay, dysmorphic facial features, hypotonia, cannot sit, hearing impairment | n/a
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| cRC-10-00017 | female | 3 | mos 46,XX,r(10)[19]/46,XX[1] | growth and developmental dealy, hypotonia, cannot stand alone, speech difficulty, cannot eat, periodic eyeball horizontal shaking movement | de novo
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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"hypotonia"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "hypotonia" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " hypotonia ". |
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| The more summary of the chromosome is not available yet. |
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