| Constitutional Ring |
|
| Somatic Ring |
|
|
|
 |
| Simple ring
|
| Complex ring
|
| Compound ring
|
| Double minute
|
| Giant ring
|
|
|
|
|
|
|
|
 |
Cases of Ring Chromosome
21
ALL
|
|
There are 5 cases now, 10 cases/page. Page.1/1
Pages: [1]
|
| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-21-00109 | male | 0 | mos 46,XY,r(21)[15]/45,XY,-21[5], arr 21q21.1q21.2(21495262_23580815)x1,21q22.3(41887412_46914715)x1 | abnormal prenatal ultrasound findings: intrauterine growth restriction, dolichocephaly, prominent forehead and nasal bridge, micrognathia, termination of pregnancy | De novo |
| cRC-21-00062 | male | 31 | 46,XY,r(21) | infertility, aspermia | n/a
|
| cRC-21-00061 | female | 30 | mos 46,XX,r(21)[166]/46,XX,r(21)var[64]/45,XX,-21[20], arr 21q22.2q22.3(40218429_43457934)x1~2,21q22.3(43457934_48093361)x1 | infertility, amenorrhea, small uterine by ultrasound | Parental n/a, no family history
|
| cRC-21-00060 | female | 26 | mos 46,XX,r(21)(p11q22)[91]/46,XX,r(21)var[4]/45,XX,-21[5] | infertility | Parental n/a, no family history
|
| cRC-21-00059 | male | 2 | mos 46,XY,r(21)(p11q22.3)[91]/46,XY,r(21)var[5]/45,XY,-21[4] | developmental delay, speech difficulty, delay in walking, dysmorphic facial features | De novo |
|
| Summary |
|
|
|
Figure.1 The frequency of symptoms in case(s)
of ring chromosome 21 |
Figure.2 The gender distribution in case(s) of ring
chromosome 21 |
| |
| The more summary of the chromosome is not available yet. |
|
|
Views.