| 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-15-00106 | male | 0 | 46,XY,r(15)(p13q26) | fetus with increased nuchal fold, intrauterine growth restriction | De novo |
| cRC-15-00105 | female | 0 | mos 46,XX,r(15)(p13q26)[111]/45,XX,-15[7] | increased risk for down syndrome by prenatal screening, ultrasound showed hypoplasia of the cerebellum and hydrops fetalis | n/a |
| cRC-13-00104 | male | 5 | mos 46,XY[.35]/46,XY,r(13)[.61]/46,XY,dic r(13)[.04] | intellectual disability, microcephaly, bilateral cataracts, hearing impairment, hypospadia with microphallus | n/a |
| cRC-13-00103 | female | 0 | mos 46,XX,r(13)(p11q32)[17]/45,XX,-13[5] | prenatal ultrasound: intrauterine growth restriction, anencephaly, termination of pregnancy | De novo |
| cRC-13-00102 | female | 13 | 46,XX,r(13)(p13q34)[71]/46~47,XX,r(13)var[11]/45,XX-15[12]/46,XX,-13,+mar[5]/46,XX[1], arr 13q34(109743729_144110721)x1 | intellectual disability, developmental delay, dysmorphic facial features, microcephaly, hearing impairment, prolonged prothrombin time | De novo |
| cRC-13-00101 | male | 0 | Amniocytes: mos 46,XY,r(13)[50]/45,XY,-13[23]; FISH: r(13):-13:idic r(13) as 85%:13%:2%; arr[hg19] 13q34(110944977_115169878)×1; cord blood: mos 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]; POC: mos 46,XY,mar(13)[31]/45,XY,-13[3]; arr 13q13.3q34(37360000_115170000)x1 | maternal anxiety, down syndrome risk of 1/650 derived from second-trimester maternal serum screening
| De novo |
| cRC-7-00000 | male | 0 | 46,XY,r(7)(p22q36) | intrauterine growth restriction, oligohydramnios, multicystic dysplastic kidney, low birth weight, imperforate anus, hypospadia, micropenis, right cryptorchidism | n/a |
| cRC-7-00000 | female | 2 | mos 46.XX,r(7)(p22q36)[75]/46~47,XX,r(7)var[11]/45,XX,-7[12] | developmental delay, microcephaly, dysmorphic facial features, syndactyly of toes, speech difficulty
| n/a |
| cRC-4-00098 | female | 0 | mos 46,XX[.84]/46,XX,r(4)(p16q22.3)[.12]/47,XX,r(4),+del(4)(q22.3)[.04] | amelia, dextracardia, asplenia, congenital short bowel | De novo |
| cRC-2-00096 | male | 0 | 46,XY,r(2)(p25.3q37.3), arr 2p25.3(0-3327081)x1,2q37.3(238633185-243055144)x1 | intrauterine growth restriction, microcephaly, and lissencephaly by ultrasound | 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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