| 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-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-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-8-00030 | female | 3 | mos 46,XX,r(8)(p23q24)[12]/47,XX,r(8)var[17]/45,XX,-8[21] | developmental delay, speech difficulty, low set ear
| de novo
|
| cRC-6-00029 | female | 1 | mos 46,XX,r(6)/46~47,XX,r(6)var/45,XX,-6, arr 6p25.3p25.1(255359_5695486)x1,6q27(170726737_170890108)x1 | developmental delay, microcephaly, dysmorphic facial features | de novo
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| cRC-6-00028 | male | 0 | mos 46,XY,r(6)[14]/46,XY,r(6)var[1]/45,XY,-6[15], arr 6p25.3p25.2(255350_2680637)x1,6q26q27(163050344_170890108)x1 | increased risk for down syndrome by prenatal screening, microcephaly | de novo
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| cRC-5-00027 | female | 0 | mos 46,XX,r(5)/46,XX | low birth weight, developmental delay, dysmorphic facial feature, cat-like cry, congenital heart defect by ultrasound | de novo
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| cRC-4-00026 | male | 1 | mos 46,XY,r(4)(p16q35)[52]/46~47,XY,r(4)var[8] | developmental delay, right side cryptorchidism, cannot flip
| Parental denial
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| cRC-4-00025 | female | 1 | mos 46,XX,r(4)[45]/46~47,XX,r(4)var[5], seq del(3)(q21.1q21.2):g.[chr3:122877023_124463837del],r(4)(p16.3q34.3):g.[chr4:pter::181914952_190796051del] | low birth weight, developmental delay, cannot sit
| de novo
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| cRC-2-00024 | male | 19 | 46,XY,r(2)(p25q37) | intellectual disability, microcephaly, dysmorphic facial features, external genital dysplasia | n/a
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| 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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| 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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