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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome 4    ALL

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

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-4-00098female0mos 46,XX[.84]/46,XX,r(4)(p16q22.3)[.12]/47,XX,r(4),+del(4)(q22.3)[.04]amelia, dextracardia, asplenia, congenital short bowelDe novo
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-4-00025female1mos 46,XX,r(4)[45]/46~47,XX,r(4)var[5], seq del(3)(q21.1q21.2):g.[chr3:122877023_124463837del],r(4)(p16.3q34.3):g.[chr4:pter::181914952_190796051del]low birth weight, developmental delay, cannot sit de novo
cRC-4-00004male23mos 46,XY,r(4)(p16.3q35.2)[31]/45,XY,-4[3], arr[hg18] 4p16.3(57770_910354)x1wolf-hirschhorn syndrome like features, severe oligospermia, developmental delay, mild intellectual disability, microcephalyde novo
cRC-4-00003male046,XX,r(4)low birth weight, hypotonia, microcephaly, dysmorphic features, death after 13hrde novo

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Summary

Figure.1 The frequency of symptoms in case(s) of ring chromosome  4

Figure.2 The gender distribution in case(s) of ring chromosome 4

 
The more summary of the chromosome is not available yet.
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