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: 4 cases were found about "congenital heart defect", 10 cases/page. Page. 1/1
Pages: [1]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-10-00032 | male | 0 | mos 46,XY,r(10)(p15q26)[33]/46,XY,r(10)var[5]/45,XY,-10[9] | developmental delay, congenital heart defect, cerebral palsy, cryptorchidism, hypotonia | de novo
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cRC-14-00023 | female | 1 | 46,XX,r(14)(p13q32) | epilepsy, developmental delay, dysmorphic facial features, congenital heart defect, brain anomaly by mri, digital anomalies | n/a
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cRC-5-00027 | female | 0 | mos 46,XX,r(5)/46,XX | low birth weight, developmental delay, dysmorphic facial feature, cat-like cry, congenital heart defect by ultrasound | de novo
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cRC-3-00085 | female | 0 | mos 46,XX,r(3)(p26q29)[90]/47,XX,-3,+2r[5]/46,XX,der(3)(p24q29)[5], arr 3p26.3p25.3(61891_9979408)x1 | developmental delay, congenital heart defect, microcephaly, dysmorphic facial features, hypotonia | De novo |
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Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"congenital heart defect"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "congenital heart defect" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " congenital heart defect ". |
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The more summary of the chromosome is not available yet. |
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