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: 3 cases were found about "mlpa", 10 cases/page. Page. 1/1
Pages: [1]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-13-00022 | female | 5 | 46,XX,r(13).rsa 13q32qter(ING1,P85SPR)x1 | developmental delay, cerebral palsy
| de novo |
cRC-6-00028 | male | 0 | mos 46,XY,r(6)[14]/46,XY,r(6)var[1]/45,XY,-6[15], arr 6p25.3p25.2(255350_2680637)x1,6q26q27(163050344_170890108)x1 | increased risk for down syndrome by prenatal screening, microcephaly | de novo
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cRC-6-00029 | female | 1 | mos 46,XX,r(6)/46~47,XX,r(6)var/45,XX,-6, arr 6p25.3p25.1(255359_5695486)x1,6q27(170726737_170890108)x1 | developmental delay, microcephaly, dysmorphic facial features | de novo
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Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"mlpa"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "mlpa" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " mlpa ". |
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The more summary of the chromosome is not available yet. |
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