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 "affymetrix chip", 10 cases/page. Page. 1/1
Pages: [1]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-4-00004 | male | 23 | mos 46,XY,r(4)(p16.3q35.2)[31]/45,XY,-4[3], arr[hg18] 4p16.3(57770_910354)x1 | wolf-hirschhorn syndrome like features, severe oligospermia, developmental delay, mild intellectual disability, microcephaly | de novo
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cRC-21-00061 | female | 30 | mos 46,XX,r(21)[166]/46,XX,r(21)var[64]/45,XX,-21[20], arr 21q22.2q22.3(40218429_43457934)x1~2,21q22.3(43457934_48093361)x1 | infertility, amenorrhea, small uterine by ultrasound | Parental n/a, no family history
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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 |
cRC-13-00087 | male | 1 | 47,XYY,r(13)(p11q34), arr 13q33.2q34(104865782_113948665)× 1 | intellectual disability, developmental delay, microcephaly, dysmorphic facial features, bilateral severe sensorineural hearing loss, corpus callosum hypoplasia, cerebral white matter abnormality, speech difficulty, microorchidism, hypospadias
| De novo |
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Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"affymetrix chip"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "affymetrix chip" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " affymetrix chip ". |
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The more summary of the chromosome is not available yet. |
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