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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome    ALL
SEARCH RESULTS: 8 cases were found about "parental denial", 10 cases/page. Page. 1/1  Pages: [1]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-5-00007female246,XX,r(5)low birth weight, intellectual disability, developmental delay, microcephaly, heart defect, dysmorphic facial featureParental denial
cRC-13-00037male0mos 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, epilepsyParental denial
cRC-4-00026male1mos 46,XY,r(4)(p16q35)[52]/46~47,XY,r(4)var[8]developmental delay, right side cryptorchidism, cannot flip Parental denial
cRC-14-00044male546,XY,r(14)epilepsy, fever, frequent lung infections, dysmorphic facial features, slow reactionParental denial
cRC-14-00045male146,XY,r(14)(p11q32)developmental delay, epilepsy, hypotonia, dysmorphic facial featuresParental denial
cRC-22-00067male046,XY,r(22)(p12q13)developmental delay, slow reflex, poor hearing, hypotonia, dysmorphic facial featuresParental denial
cRC-20-00058female12mos 46,XX[36]/46,XX,r(20)(p13q13.3)[14]growth delay (bone age 9-10 year), learning difficulty in elementary school, epilepsy noted at age 6 yearParental denial
cRC-15-00090male1246,XY,r(15)(p13q26)developmental delay, intellectual disability, microcephalyParental denial

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Summary
 

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

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

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