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
X
ALL
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There are 13 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-X-00114 | female | 13 | mos 45,X/46,X,r(X) | kabuki make-up syndrome, dysmorphic facial features, intellectual disability, skeletal abnormalities, unusual dermatologic patterns, short stature, delayed puberty | n/a |
cRC-X-00113 | female | 0 | mos 45,X[89]/46,X,r(X)(p22q25)[11] | n/a | n/a |
cRC-X-00112 | female | 13 | mos 46,XX[20]/46,r(X)(p22q22)[80] | short stature, developmental delay, intellectual disability, iq;66 | n/a |
cRC-X-00095 | female | 0 | mos r(X) | premature ovarian failure | n/a |
cRC-X-00079 | female | 0 | mos 46,X,r(X)/45,X | turner syndrome
| n/a
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cRC-X-00078 | female | 25 | mos 45,X[37]/46,X,r(X)(p22.3q28)[3] | short stature, amenorrhea, no other turner-like phenotypes, ultrasound no seen uterine, mild dysplasia in genatalia | n/a
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cRC-X-00077 | female | 12 | 46,X,r(X)/45,X | short stature, turner-like phenotypes
| n/a
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cRC-X-00076 | female | 9 | 46,X,r(X)/45,X | short stature, turner-like phenotypes
| n/a
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cRC-X-00075 | female | 15 | 46,X,r(X)/45,X | short stature, turner-like phenotypes
| n/a
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cRC-X-00074 | female | 4 | 46,X,r(X)/45,X | short stature, turner-like phenotypes
| n/a
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Summary |
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Figure.1 The frequency of symptoms in case(s)
of ring chromosome X |
Figure.2 The gender distribution in case(s) of ring
chromosome X |
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The more summary of the chromosome is not available yet. |
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