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| Somatic Ring |
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| Simple ring
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| Complex ring
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Cases of Ring Chromosome
ALL
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SEARCH RESULTS： 11 cases were found about "amniotic fluid", 10 cases/page. Page. 1/2
Pages： [1] [2]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| 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-14-00046 | male | 0 | 46,XY,r(14) | pregnancy termination
| n/a |
| cRC-15-00105 | female | 0 | mos 46,XX,r(15)(p13q26)[111]/45,XX,-15[7] | increased risk for down syndrome by prenatal screening, ultrasound showed hypoplasia of the cerebellum and hydrops fetalis | n/a |
| cRC-15-00106 | male | 0 | 46,XY,r(15)(p13q26) | fetus with increased nuchal fold, intrauterine growth restriction | De novo |
| cRC-18-00000 | male | 0 | mos 46,XY,r(18)(p11.21q21.2)[81]/46,XY,idic r(18)/45,XY,-18[3]/46,XY[13], arr 18p11.32p11.21(0_14941330)x1,18q21.2q23(46533430_76117153)x1 | ventriculomegaly by ultrasound, microcephaly, dysmorphic facial features, simian crease, broad hands, tapered fingers, clubfeet, micropenis, hypotonia, ventricular septal defect | n/a |
| cRC-13-00101 | male | 0 | Amniocytes: mos 46,XY,r(13)[50]/45,XY,-13[23]; FISH: r(13):-13:idic r(13) as 85%:13%:2%; arr[hg19] 13q34(110944977_115169878)×1; cord blood: mos 46,XY,r(13)[91]/46,XY,idic r(13)[6]/45,XY,-13[3]; POC: mos 46,XY,mar(13)[31]/45,XY,-13[3]; arr 13q13.3q34(37360000_115170000)x1 | maternal anxiety, down syndrome risk of 1/650 derived from second-trimester maternal serum screening
| De novo |
| cRC-13-00103 | female | 0 | mos 46,XX,r(13)(p11q32)[17]/45,XX,-13[5] | prenatal ultrasound: intrauterine growth restriction, anencephaly, termination of pregnancy | De novo |
| cRC-21-00109 | male | 0 | mos 46,XY,r(21)[15]/45,XY,-21[5], arr 21q21.1q21.2(21495262_23580815)x1,21q22.3(41887412_46914715)x1 | abnormal prenatal ultrasound findings: intrauterine growth restriction, dolichocephaly, prominent forehead and nasal bridge, micrognathia, termination of pregnancy | De novo |
| cRC-22-00110 | male | 0 | 46,XY,r(22)(p13q13) | borderline ventriculomegaly by ultrasound, termination of pregnancy, stillborn fetus with no phenotypic abnormalities | n/a |
| cRC-22-00111 | female | 0 | mos 46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)[11]/45,XX-22[7] | ultrasound showed small for gestational age, ventricular septal defect, termination of pregnancy | n/a |
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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"amniotic fluid"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "amniotic fluid" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " amniotic fluid ". |
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| The more summary of the chromosome is not available yet. |
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