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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome 14    ALL

There are 8 cases now, 10 cases/page. Page.1/1  Pages: [1]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-14-00046male046,XY,r(14)pregnancy termination n/a
cRC-14-00045male146,XY,r(14)(p11q32)developmental delay, epilepsy, hypotonia, dysmorphic facial featuresParental denial
cRC-14-00044male546,XY,r(14)epilepsy, fever, frequent lung infections, dysmorphic facial features, slow reactionParental denial
cRC-14-00043male2mos 46,XX,r(14)(p11.2q32.3)[39]/45,XX,-14[11]epilepsy, developmental delay, dq: 65, dysmorphic facial featuresDe novo
cRC-14-00042male146,XY,r(14)epilepsy, cannot hold head, microcephaly, hypotonia, dysmorphic facial featuresDe novo
cRC-14-00041female1mos 46,XX,r(14)/45,XX,-14epilepsy, developmental delay, intellectual disability, microcephaly, dysmorphic facial featuresDe novo
cRC-14-00040male1mos 46,XY,r(14)(p12q32)[88],46,XY,r(14)var[2]/45,XY,-14[10]developmental delay, intellectual disability, cannot sit alone, cryptorchidism, dysmorphic facial features, epilepsyDe novo
cRC-14-00023female146,XX,r(14)(p13q32)epilepsy, developmental delay, dysmorphic facial features, congenital heart defect, brain anomaly by mri, digital anomaliesn/a

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Summary

Figure.1 The frequency of symptoms in case(s) of ring chromosome  14

Figure.2 The gender distribution in case(s) of ring chromosome 14

 
The more summary of the chromosome is not available yet.
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