| 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
13
ALL
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There are 16 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-13-00104 | male | 5 | mos 46,XY[.35]/46,XY,r(13)[.61]/46,XY,dic r(13)[.04] | intellectual disability, microcephaly, bilateral cataracts, hearing impairment, hypospadia with microphallus | n/a |
| cRC-13-00103 | female | 0 | mos 46,XX,r(13)(p11q32)[17]/45,XX,-13[5] | prenatal ultrasound: intrauterine growth restriction, anencephaly, termination of pregnancy | De novo |
| cRC-13-00102 | female | 13 | 46,XX,r(13)(p13q34)[71]/46~47,XX,r(13)var[11]/45,XX-15[12]/46,XX,-13,+mar[5]/46,XX[1], arr 13q34(109743729_144110721)x1 | intellectual disability, developmental delay, dysmorphic facial features, microcephaly, hearing impairment, prolonged prothrombin time | De novo |
| cRC-13-00101 | male | 0 | Amniocytes: mos 46,XY,r(13)[50]/45,XY,-13[23]; FISH: r(13):-13:idic r(13) as 85%:13%:2%; arr[hg19] 13q34(110944977_115169878)×1; cord blood: mos 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]; POC: mos 46,XY,mar(13)[31]/45,XY,-13[3]; arr 13q13.3q34(37360000_115170000)x1 | maternal anxiety, down syndrome risk of 1/650 derived from second-trimester maternal serum screening
| De novo |
| cRC-13-00087 | male | 1 | 47,XYY,r(13)(p11q34), arr 13q33.2q34(104865782_113948665)× 1 | intellectual disability, developmental delay, microcephaly, dysmorphic facial features, bilateral severe sensorineural hearing loss, corpus callosum hypoplasia, cerebral white matter abnormality, speech difficulty, microorchidism, hypospadias
| De novo |
| cRC-13-00039 | female | 0 | mos 46,XX,r(13)[.59]/46,XX,r(13)var[.38]/45,XX,-13[.03] | intrauterine growth restriction, low birth weight, dysmorphic facial features | n/a |
| cRC-13-00038 | female | 30 | mos 46,XX,der (6)t(6:13)(p25;q14),r(13)(p13q14)/46,XX,der(6)t(6;13),dic r(13) | infertility, normal physical and mental appearance, normal external genitalia, referred by perinatal infant death at day 10, infant showed polydactyly, cleft lip, congenital heat defect | Parental n/a, no familial history of abortions
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| cRC-13-00037 | male | 0 | mos 46,XX,r(13)(p13q34)[81]/46~47,XX,r(13)var[13]/45,XX,-13[6] | developmental delay, intellectual disability, microcephaly, hypotonia, dysmorphic facial features, epilepsy | Parental denial
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| cRC-13-00036 | female | 7 | mos 46,XX,r(13)[91]/45,XX,-13[9] | developmental delay, intellectual disability, dysmorphic facial feature, microcephaly, speech difficulty | De novo |
| cRC-13-00035 | female | 12 | mos 46,XX,r(13)[81]/46~47,XX,r(13)var[3]/45,XX,-13[6] | developmental delay, intellectual disability, dysmorphic facial features, turner-like webbed neck | NT |
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| Summary |
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Figure.1 The frequency of symptoms in case(s)
of ring chromosome 13 |
Figure.2 The gender distribution in case(s) of ring
chromosome 13 |
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| The more summary of the chromosome is not available yet. |
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