| 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-X-00095 | female | 0 | mos r(X) | premature ovarian failure | n/a |
| cRC-22-00094 | female | 9 | 46,XX,r(22)(p11q13), arr[hg19] 22q13.31q13.33(47377174_51183871)x1 | developmental delay, severe autism, dysmorphic facial features, hypotonia | De novo |
| cRC-18-00092 | female | 7 | 46, XX, r(18)(p11.31q23), arr(18)(p11.31)(1-3,881,565 )x1, arr(18)(q23)(73,239,237-78077248)x1 | hypothyroidism(at 2y), short stature, intellectual disability, hypoactive, hypotonia, dysmorphic facial features, abnormal thyroid function, pituitary dysplasia(by mri), both kidneys were smaller(by ultrasound).
| De novo |
| cRC-15-00090 | male | 12 | 46,XY,r(15)(p13q26) | developmental delay, intellectual disability, microcephaly | Parental denial |
| cRC-15-00089 | male | 8 | 46,XY,r(15), arr 15q26.3(99689349_100282878)x1 | developmental delay, short stature | De novo |
| cRC-13-00087 | male | 1 | 47,XYY,r(13)(p11q34), arr 13q33.2q34(104865782_113948665)× 1 | intellectual disability, developmental delay, microcephaly, dysmorphic facial features, bilateral severe sensorineural hearing loss, corpus callosum hypoplasia, cerebral white matter abnormality, speech difficulty, microorchidism, hypospadias
| De novo |
| cRC-11-00086 | female | 5 | 46,XX,r(11)(p15.5q25)[27]/45,XX,-11[3] | developmental delay, wilms’ tumor
| De novo |
| cRC-3-00085 | female | 0 | mos 46,XX,r(3)(p26q29)[90]/47,XX,-3,+2r[5]/46,XX,der(3)(p24q29)[5], arr 3p26.3p25.3(61891_9979408)x1 | developmental delay, congenital heart defect, microcephaly, dysmorphic facial features, hypotonia | De novo |
| cRC-15-00084 | female | 0 | 46,XX,r(15)(p11q26) | developmental delay, slow reflex
| n/a
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| cRC-9-00083 | female | 0 | 46,XX,r(9) | n/a | 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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