| 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
22
ALL
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There are 11 cases now, 10 cases/page. Page.1/2
Pages: [1] [2]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-22-00111 | female | 0 | mos 46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)[11]/45,XX-22[7] | ultrasound showed small for gestational age, ventricular septal defect, termination of pregnancy | n/a |
| cRC-22-00110 | male | 0 | 46,XY,r(22)(p13q13) | borderline ventriculomegaly by ultrasound, termination of pregnancy, stillborn fetus with no phenotypic abnormalities | 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-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
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| cRC-22-00067 | male | 0 | 46,XY,r(22)(p12q13) | developmental delay, slow reflex, poor hearing, hypotonia, dysmorphic facial features | Parental denial
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| cRC-22-00066 | female | 2 | 46,XX,r(22)(p12q13) | sensorineural hearing loss, hypotonia, cannot walk and speak
| n/a
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| 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 |
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| Summary |
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Figure.1 The frequency of symptoms in case(s)
of ring chromosome 22 |
Figure.2 The gender distribution in case(s) of ring
chromosome 22 |
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| The more summary of the chromosome is not available yet. |
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