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
ALL
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SEARCH RESULTS: 8 cases were found about "parental denial", 10 cases/page. Page. 1/1
Pages: [1]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-5-00007 | female | 2 | 46,XX,r(5) | low birth weight, intellectual disability, developmental delay, microcephaly, heart defect, dysmorphic facial feature | Parental denial |
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-4-00026 | male | 1 | mos 46,XY,r(4)(p16q35)[52]/46~47,XY,r(4)var[8] | developmental delay, right side cryptorchidism, cannot flip
| Parental denial
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cRC-14-00044 | male | 5 | 46,XY,r(14) | epilepsy, fever, frequent lung infections, dysmorphic facial features, slow reaction | Parental denial
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cRC-14-00045 | male | 1 | 46,XY,r(14)(p11q32) | developmental delay, epilepsy, hypotonia, dysmorphic facial features | Parental denial
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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-20-00058 | female | 12 | mos 46,XX[36]/46,XX,r(20)(p13q13.3)[14] | growth delay (bone age 9-10 year), learning difficulty in elementary school, epilepsy noted at age 6 year | Parental denial
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cRC-15-00090 | male | 12 | 46,XY,r(15)(p13q26) | developmental delay, intellectual disability, microcephaly | Parental denial |
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Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"parental denial"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "parental denial" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " parental denial ". |
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The more summary of the chromosome is not available yet. |
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