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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome    ALL
SEARCH RESULTS: 19 cases were found about "hypotonia", 10 cases/page. Page. 1/2  Pages: [1] [2]

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-4-00003male046,XX,r(4)low birth weight, hypotonia, microcephaly, dysmorphic features, death after 13hrde novo
cRC-5-00005male346,XX,r(5)low birth weight, developmental delay, hypotonia, microcephaly, down-syndrome like face, no testisde 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-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-10-00032male0mos 46,XY,r(10)(p15q26)[33]/46,XY,r(10)var[5]/45,XY,-10[9]developmental delay, congenital heart defect, cerebral palsy, cryptorchidism, hypotoniade novo
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-9-00014female0mos 46,XX,r(9)(p23q34)[36]/46,XX[14]developmental delay, dysmorphic facial features, hypotoniade novo
cRC-9-00015female0mos 46,XX,r(9)(p24q34)[96]/45,X,-9[4].ish r(9)(pter-,qter-)developmental delay, dysmorphic facial features, hypotonia, cannot sit, hearing impairmentn/a
cRC-10-00017female3mos 46,XX,r(10)[19]/46,XX[1]growth and developmental dealy, hypotonia, cannot stand alone, speech difficulty, cannot eat, periodic eyeball horizontal shaking movementde novo

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Summary
 

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

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

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