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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： 43 cases were found about "dysmorphic facial features", 10 cases/page. Page. 2/5
Pages： [1] [2] [3] [4] [5]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-8-00013 | male | 3 | mos 46,XY,r(8)/47,XY,r(8)x2/45,XY,-8 | developmental delay, intellectual disability, need support to walk, speech difficulty, dysmorphic facial features | de novo
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| cRC-9-00014 | female | 0 | mos 46,XX,r(9)(p23q34)[36]/46,XX[14] | developmental delay, dysmorphic facial features, hypotonia | de novo
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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-12-00018 | female | 3 | mos 46,XX,r(12)[98]/46,XX,r(12)var[2] | developmental delay, short stature, microcephaly, dysmorphic facial features | de novo
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| cRC-13-00019 | female | 6 | mos 46,XX,r(13)[132]/46~47,XX,r(13)var[12]/45,XX,-13[16] | developmental delay, intellectual disability, speech difficulty, dysmorphic facial features, hyperactivity | de novo
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| cRC-13-00020 | female | 26 | mos 46,XX,r(13)[208]/46~47,XX,r(13)var[20]/45,XX,-13[22] | intellectual disability, infertility, speech difficulty, microcephaly, dysmorphic facial features | n/a
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| cRC-13-00021 | male | 2 | mos 46,XY,r(13)[140]/46~47,XY,r(13)var[18]/45,XY,-13[35] | microcephaly, dysmorphic facial features, ambiguous genitalia, cryptorchidism, retinal defect, hyperactivity, skin with pigmental patch, sensitive to light and itch | n/a
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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-2-00024 | male | 19 | 46,XY,r(2)(p25q37) | intellectual disability, microcephaly, dysmorphic facial features, external genital dysplasia | n/a
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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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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"dysmorphic facial features"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "dysmorphic facial features" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " dysmorphic facial features ". |
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| The more summary of the chromosome is not available yet. |
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