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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome    ALL
SEARCH RESULTS: 113 cases were found about "karyotype", 10 cases/page. Page. 1/12  Pages: [1] [2] [3] [4] [5] [>] [>|]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-1-00001female1246,XX,r(1)low birth weight, developmental delay, intellectual disability, speech delay, ambiguous genitaliade novo
cRC-2-00002male3mos 46,XY/46,XY,r(2)(p25q37)/47,XY,r(2),+r(2)/45,XY,-2developmental delay, intellectual disability, dysmorphic facial features, cat-like cry, hypotonia, cannot walk and speak, external genital dysplasia. de novo
cRC-4-00003male046,XX,r(4)low birth weight, hypotonia, microcephaly, dysmorphic features, death after 13hrde novo
cRC-4-00004male23mos 46,XY,r(4)(p16.3q35.2)[31]/45,XY,-4[3], arr[hg18] 4p16.3(57770_910354)x1wolf-hirschhorn syndrome like features, severe oligospermia, developmental delay, mild intellectual disability, microcephalyde novo
cRC-5-00005male346,XX,r(5)low birth weight, developmental delay, hypotonia, microcephaly, down-syndrome like face, no testisde novo
cRC-5-00006female146,XX,r(5)low birth weight, developmental delay, speech delay, need support to walkde novo
cRC-5-00007female246,XX,r(5)low birth weight, intellectual disability, developmental delay, microcephaly, heart defect, dysmorphic facial featureParental denial
cRC-6-00008male746,XY,r(6)(p25q27)developmental delay, intellectual disability, frequent respiratory infections, walking and speech difficulty, hypotonia, dysmorphic facial featuresde novo
cRC-6-00009female2mos 46,XX,r(6)(p24q26)[22]/46,XX[8]developmental delay, microcephaly, intellectual disability, iq67, hyperactivity, intermediate speech difficultyde novo
cRC-6-00010female0mos 46,XX,r(6)[46]/47,XX,r(6)x2[6]/45,XX,-6[5]developmental delay, hypotonia, cannot hold head, slow reaction, cerebral palsy, reduced brain white matter by ct.de novo

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Summary
 

Figure.1 The relative frequency in ring chromosomes case(s) of "karyotype" (the number in bracket is the count of the chromosome)

Figure.2 The gender distribution ring chromosome case(s) of "karyotype"

 
Figure.3 The age distribution of ring chromosome cases associated with " karyotype ".
 
The more summary of the chromosome is not available yet.
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