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: 19 cases were found about "fish", 10 cases/page. Page. 1/2
Pages: [1] [2]
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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-9-00031 | male | 0 | mos 46,XY,r(9)(p23p34)[96]/45~47,r(9)var[9], arr 9p24.3p23(174201-9721761)x1 | developmental delay, dysmorphic facial features, ambiguous genitalia | de novo
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cRC-13-00038 | female | 30 | mos 46,XX,der (6)t(6:13)(p25;q14),r(13)(p13q14)/46,XX,der(6)t(6;13),dic r(13) | infertility, normal physical and mental appearance, normal external genitalia, referred by perinatal infant death at day 10, infant showed polydactyly, cleft lip, congenital heat defect | Parental n/a, no familial history of abortions
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cRC-9-00015 | female | 0 | mos 46,XX,r(9)(p24q34)[96]/45,X,-9[4].ish r(9)(pter-,qter-) | developmental delay, dysmorphic facial features, hypotonia, cannot sit, hearing impairment | n/a
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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-22-00069 | male | 3 | 46,XY,r(22)(p11q13), arr[hg19] 21q13.33(44183172_51211392)x1 | developmental delay, dq:42, ataxic gait, speech difficulty | De novo |
cRC-22-00070 | male | 2 | mos 46,XY,r(22)(p11q13)[84]/45,XY,-22[6] arr[hg19] 22q13.33(49612799_51211392)x1 | developmental delay, , speech difficulty
| De novo |
cRC-21-00059 | male | 2 | mos 46,XY,r(21)(p11q22.3)[91]/46,XY,r(21)var[5]/45,XY,-21[4] | developmental delay, speech difficulty, delay in walking, dysmorphic facial features | De novo |
cRC-X-00071 | female | 1 | mos 45,X[83]/46,X,r(X)(p22.1q22)[17] | short stature, turner-like phenotypes
| De novo |
cRC-2-00096 | male | 0 | 46,XY,r(2)(p25.3q37.3), arr 2p25.3(0-3327081)x1,2q37.3(238633185-243055144)x1 | intrauterine growth restriction, microcephaly, and lissencephaly by ultrasound | De novo |
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Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"fish"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "fish" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " fish ". |
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The more summary of the chromosome is not available yet. |
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