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: 15 cases were found about "short stature", 10 cases/page. Page. 1/2
Pages: [1] [2]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-8-00011 | male | 5 | 46,XY,r(8)(p23q24) | short stature, intellectual disability | de novo
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cRC-12-00018 | female | 3 | mos 46,XX,r(12)[98]/46,XX,r(12)var[2] | developmental delay, short stature, microcephaly, dysmorphic facial features | de novo
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cRC-X-00071 | female | 1 | mos 45,X[83]/46,X,r(X)(p22.1q22)[17] | short stature, turner-like phenotypes
| De novo |
cRC-X-00072 | female | 10 | mos 46,X,r(X)p22q32)[0.60]/45,X[0.40] | short stature, learning difficulty, skin pigmentation
| n/a
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cRC-X-00073 | female | 21 | mos 45,X[67]/46,X,r(X)(p22q22)[18] | short stature, amenorrhea,
| 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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cRC-X-00075 | female | 15 | 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-00077 | female | 12 | 46,X,r(X)/45,X | short stature, turner-like phenotypes
| 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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Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"short stature"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "short stature" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " short stature ". |
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The more summary of the chromosome is not available yet. |
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