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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome    ALL
SEARCH RESULTS: 43 cases were found about "dysmorphic facial features", 10 cases/page. Page. 1/5  Pages: [1] [2] [3] [4] [5]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
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-6-00008male746,XY,r(6)(p25q27)developmental delay, intellectual disability, frequent respiratory infections, walking and speech difficulty, hypotonia, dysmorphic facial featuresde novo
cRC-9-00031male0mos 46,XY,r(9)(p23p34)[96]/45~47,r(9)var[9], arr 9p24.3p23(174201-9721761)x1developmental delay, dysmorphic facial features, ambiguous genitaliade novo
cRC-13-00033female14mos 46,XX,r(13)[18]/46~47,XX,r(13)var[5]/45,XX,-13[7]developmental delay, intellectual disability, dysmorphic facial features, obesity after age 10De novo
cRC-13-00034male0mos 46,XY,r(13)(p13q34)[81]/46~47,XY,r(13)var[13]/45,XY,-13[6]developmental delay, intellectual disability, dq: 46, microcephaly, cannot hold head, dysmorphic facial features, epilepsyDe novo
cRC-13-00035female12mos 46,XX,r(13)[81]/46~47,XX,r(13)var[3]/45,XX,-13[6]developmental delay, intellectual disability, dysmorphic facial features, turner-like webbed neckNT
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-13-00039female0mos 46,XX,r(13)[.59]/46,XX,r(13)var[.38]/45,XX,-13[.03]intrauterine growth restriction, low birth weight, dysmorphic facial featuresn/a
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-8-00012male446,XY,r(8)(p23q24)developmental delay, intellectual disability, speech difficulty, dysmorphic facial features, cryptorchidismde novo

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Summary
 

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

Figure.2 The gender distribution ring chromosome case(s) of "dysmorphic facial features"

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