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 "low birth weight", 10 cases/page. Page. 1/1
Pages: [1]
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Case No. | Gender | Age | Cytogenomic findings | Major clinical feature | Inheritance |
cRC-1-00001 | female | 12 | 46,XX,r(1) | low birth weight, developmental delay, intellectual disability, speech delay, ambiguous genitalia | de novo |
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-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-5-00006 | female | 1 | 46,XX,r(5) | low birth weight, developmental delay, speech delay, need support to walk | 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-13-00039 | female | 0 | mos 46,XX,r(13)[.59]/46,XX,r(13)var[.38]/45,XX,-13[.03] | intrauterine growth restriction, low birth weight, dysmorphic facial features | n/a |
cRC-4-00025 | female | 1 | mos 46,XX,r(4)[45]/46~47,XX,r(4)var[5], seq del(3)(q21.1q21.2):g.[chr3:122877023_124463837del],r(4)(p16.3q34.3):g.[chr4:pter::181914952_190796051del] | low birth weight, developmental delay, cannot sit
| de novo
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cRC-5-00027 | female | 0 | mos 46,XX,r(5)/46,XX | low birth weight, developmental delay, dysmorphic facial feature, cat-like cry, congenital heart defect by ultrasound | de novo
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cRC-7-00000 | male | 0 | 46,XY,r(7)(p22q36) | intrauterine growth restriction, oligohydramnios, multicystic dysplastic kidney, low birth weight, imperforate anus, hypospadia, micropenis, right cryptorchidism | n/a |
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Summary |
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Figure.1 The relative frequency in ring chromosomes case(s) of
"low birth weight"
(the number in bracket is the count of the chromosome) |
Figure.2 The gender distribution ring
chromosome case(s) of "low birth weight" |
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Figure.3 The
age distribution of ring chromosome
cases associated with " low birth weight ". |
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The more summary of the chromosome is not available yet. |
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