| Constitutional Ring |
|
| Somatic Ring |
|
|
|
 |
| Simple ring
|
| Complex ring
|
| Compound ring
|
| Double minute
|
| Giant ring
|
|
|
|
|
|
|
|
|
Cases of Ring Chromosome
|
| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-X-00072 | female | 10 | mos 46,X,r(X)p22q32)[0.60]/45,X[0.40] | short stature, learning difficulty, skin pigmentation
| n/a
|
| cRC-X-00071 | female | 1 | mos 45,X[83]/46,X,r(X)(p22.1q22)[17] | short stature, turner-like phenotypes
| De novo |
| cRC-22-00070 | male | 2 | mos 46,XY,r(22)(p11q13)[84]/45,XY,-22[6] arr[hg19] 22q13.33(49612799_51211392)x1 | developmental delay, , speech difficulty
| De novo |
| cRC-22-00069 | male | 3 | 46,XY,r(22)(p11q13), arr[hg19] 21q13.33(44183172_51211392)x1 | developmental delay, dq:42, ataxic gait, speech difficulty | De novo |
| cRC-22-00068 | male | 29 | 46,XY,r(22)(p11q13) | infertility, aspermia | n/a
|
| cRC-22-00067 | male | 0 | 46,XY,r(22)(p12q13) | developmental delay, slow reflex, poor hearing, hypotonia, dysmorphic facial features | Parental denial
|
| cRC-22-00066 | female | 2 | 46,XX,r(22)(p12q13) | sensorineural hearing loss, hypotonia, cannot walk and speak
| n/a
|
| cRC-22-00065 | female | 7 | 46,XX,r(22)(p11.2q13.3) | intellectual disability, ataxi gait, hypotonia, dysmorphic facial features | De novo |
| cRC-22-00064 | female | 1 | 46,XX,r(22) | intellectual disability
| De novo |
| cRC-22-00063 | female | 2 | 46,XX,r(22)(p12q13) | developmental delay, dysmorphic facial features, microcephaly, congenital hearing loss | De novo |
|
| Summary |
|
|
Figure.1 The relative frequency of ring chromosome
cases
(the number in bracket is the count of the chromosome) |
|
|
| Figure.2 The frequency of symptoms
in 112 ring chromosome
cases |
Figure.3 The gender
distribution in 112 ring chromosome
cases |
|
|
|
Figure.4 The
age distribution of 112 ring chromosome
cases |
|
| |
| The more summary of the chromosome is not available yet. |
|
|
Views.