| 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
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-13-00022 | female | 5 | 46,XX,r(13).rsa 13q32qter(ING1,P85SPR)x1 | developmental delay, cerebral palsy
| de novo |
| cRC-13-00021 | male | 2 | mos 46,XY,r(13)[140]/46~47,XY,r(13)var[18]/45,XY,-13[35] | microcephaly, dysmorphic facial features, ambiguous genitalia, cryptorchidism, retinal defect, hyperactivity, skin with pigmental patch, sensitive to light and itch | n/a
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| cRC-13-00020 | female | 26 | mos 46,XX,r(13)[208]/46~47,XX,r(13)var[20]/45,XX,-13[22] | intellectual disability, infertility, speech difficulty, microcephaly, dysmorphic facial features | n/a
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| cRC-13-00019 | female | 6 | mos 46,XX,r(13)[132]/46~47,XX,r(13)var[12]/45,XX,-13[16] | developmental delay, intellectual disability, speech difficulty, dysmorphic facial features, hyperactivity | de novo
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| cRC-12-00018 | female | 3 | mos 46,XX,r(12)[98]/46,XX,r(12)var[2] | developmental delay, short stature, microcephaly, dysmorphic facial features | de novo
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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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| cRC-9-00016 | female | 0 | 46,XX,r(9)(p24q34) | n/a | n/a
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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-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-8-00013 | male | 3 | mos 46,XY,r(8)/47,XY,r(8)x2/45,XY,-8 | developmental delay, intellectual disability, need support to walk, speech difficulty, dysmorphic facial features | de novo
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| Summary |
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Figure.1 The relative frequency of ring chromosome
cases
(the number in bracket is the count of the chromosome) |
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| Figure.2 The frequency of symptoms
in 112 ring chromosome
cases |
Figure.3 The gender
distribution in 112 ring chromosome
cases |
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Figure.4 The
age distribution of 112 ring chromosome
cases |
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| The more summary of the chromosome is not available yet. |
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