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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome 6    ALL

There are 5 cases now, 10 cases/page. Page.1/1  Pages: [1]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-6-00029female1mos 46,XX,r(6)/46~47,XX,r(6)var/45,XX,-6, arr 6p25.3p25.1(255359_5695486)x1,6q27(170726737_170890108)x1developmental delay, microcephaly, dysmorphic facial featuresde novo
cRC-6-00028male0mos 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)x1increased risk for down syndrome by prenatal screening, microcephalyde 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
cRC-6-00009female2mos 46,XX,r(6)(p24q26)[22]/46,XX[8]developmental delay, microcephaly, intellectual disability, iq67, hyperactivity, intermediate speech difficultyde novo
cRC-6-00008male746,XY,r(6)(p25q27)developmental delay, intellectual disability, frequent respiratory infections, walking and speech difficulty, hypotonia, dysmorphic facial featuresde novo

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Summary

Figure.1 The frequency of symptoms in case(s) of ring chromosome  6

Figure.2 The gender distribution in case(s) of ring chromosome 6

 
The more summary of the chromosome is not available yet.
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