| Constitutional Ring |
|
| Somatic Ring |
|
|
|
 |
| Simple ring
|
| Complex ring
|
| Compound ring
|
| Double minute
|
| Giant ring
|
|
|
|
|
|
|
|
 |
Cases of Ring Chromosome
14
ALL
|
|
There are 8 cases now, 10 cases/page. Page.1/1
Pages: [1]
|
| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| 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 |
| cRC-14-00042 | male | 1 | 46,XY,r(14) | epilepsy, cannot hold head, microcephaly, hypotonia, dysmorphic facial features | De novo |
| cRC-14-00041 | female | 1 | mos 46,XX,r(14)/45,XX,-14 | epilepsy, developmental delay, intellectual disability, microcephaly, dysmorphic facial features | De novo |
| cRC-14-00040 | male | 1 | mos 46,XY,r(14)(p12q32)[88],46,XY,r(14)var[2]/45,XY,-14[10] | developmental delay, intellectual disability, cannot sit alone, cryptorchidism, dysmorphic facial features, epilepsy | De novo |
| 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
|
|
| Summary |
|
|
|
Figure.1 The frequency of symptoms in case(s)
of ring chromosome 14 |
Figure.2 The gender distribution in case(s) of ring
chromosome 14 |
| |
| The more summary of the chromosome is not available yet. |
|
|
Views.