| 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： 28 cases were found about "microcephaly", 10 cases/page. Page. 1/3
Pages： [1] [2] [3]
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| Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
| cRC-4-00003 | male | 0 | 46,XX,r(4) | low birth weight, hypotonia, microcephaly, dysmorphic features, death after 13hr | de novo
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| 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-5-00005 | male | 3 | 46,XX,r(5) | low birth weight, developmental delay, hypotonia, microcephaly, down-syndrome like face, no testis | de novo
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| cRC-5-00007 | female | 2 | 46,XX,r(5) | low birth weight, intellectual disability, developmental delay, microcephaly, heart defect, dysmorphic facial feature | Parental denial |
| cRC-6-00009 | female | 2 | mos 46,XX,r(6)(p24q26)[22]/46,XX[8] | developmental delay, microcephaly, intellectual disability, iq67, hyperactivity, intermediate speech difficulty | de novo |
| cRC-13-00034 | male | 0 | mos 46,XY,r(13)(p13q34)[81]/46~47,XY,r(13)var[13]/45,XY,-13[6] | developmental delay, intellectual disability, dq: 46, microcephaly, cannot hold head, dysmorphic facial features, epilepsy | De novo |
| cRC-13-00036 | female | 7 | mos 46,XX,r(13)[91]/45,XX,-13[9] | developmental delay, intellectual disability, dysmorphic facial feature, microcephaly, speech difficulty | De novo |
| cRC-13-00037 | male | 0 | mos 46,XX,r(13)(p13q34)[81]/46~47,XX,r(13)var[13]/45,XX,-13[6] | developmental delay, intellectual disability, microcephaly, hypotonia, dysmorphic facial features, epilepsy | Parental denial
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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-13-00020 | 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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| Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"microcephaly"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "microcephaly" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " microcephaly ". |
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| The more summary of the chromosome is not available yet. |
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