| 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： 9 cases were found about "array-cgh", 10 cases/page. Page. 1/1
Pages： [1]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| 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-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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| cRC-15-00089 | male | 8 | 46,XY,r(15), arr 15q26.3(99689349_100282878)x1 | developmental delay, short stature | 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 |
| 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-13-00102 | female | 13 | 46,XX,r(13)(p13q34)[71]/46~47,XX,r(13)var[11]/45,XX-15[12]/46,XX,-13,+mar[5]/46,XX[1], arr 13q34(109743729_144110721)x1 | intellectual disability, developmental delay, dysmorphic facial features, microcephaly, hearing impairment, prolonged prothrombin time | 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 |
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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"array-cgh"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "array-cgh" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " array-cgh ". |
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| The more summary of the chromosome is not available yet. |
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