| 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-18-00052 | female | 8 | 46,XY,r(18)(p11q23) | intellectual disability, dysmorphic facial features | De novo |
| cRC-15-00051 | male | 0 | 46,XY,r(15) | multiple congenital anomalies, dysmorphic facial features | n/a |
| cRC-15-00050 | female | 0 | 46,XX,r(15)(p13q26) | feeding difficulty, poor reaction | De novo |
| cRC-15-00049 | male | 0 | 46,XY,r(15)(p13q26) | intrauterine growth restriction, therapeutic abortion | De novo |
| cRC-15-00048 | male | 6 | 46,XY,r(15)(p12q26) | microcephaly, dysmorphic facial features, speech delay | De novo |
| cRC-15-00047 | female | 11 | mos 46,XX,r(15)(p11.2q26.1)[143]/46~47,XX,r(15)var[7]/45,XX,-15[12]/46,XX[38] | developmental delay, intellectual disability, microcephaly, dysmorphic facial features | De novo |
| cRC-14-00046 | male | 0 | 46,XY,r(14) | pregnancy termination
| n/a |
| cRC-14-00045 | male | 1 | 46,XY,r(14)(p11q32) | developmental delay, epilepsy, hypotonia, dysmorphic facial features | Parental denial
|
| cRC-14-00044 | male | 5 | 46,XY,r(14) | epilepsy, fever, frequent lung infections, dysmorphic facial features, slow reaction | Parental denial
|
| cRC-14-00043 | male | 2 | mos 46,XX,r(14)(p11.2q32.3)[39]/45,XX,-14[11] | epilepsy, developmental delay, dq: 65, dysmorphic facial features | 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. |
|
|
