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A Case Database of Human Ring Chromosome
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Cases of Ring Chromosome 22    ALL

There are 11 cases now, 10 cases/page. Page.1/2  Pages: [1] [2]

Case No.GenderAgeCytogenomic findingsMajor clinical featureInheritance
cRC-22-00111female0mos 46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)[11]/45,XX-22[7]ultrasound showed small for gestational age, ventricular septal defect, termination of pregnancyn/a
cRC-22-00110male046,XY,r(22)(p13q13)borderline ventriculomegaly by ultrasound, termination of pregnancy, stillborn fetus with no phenotypic abnormalitiesn/a
cRC-22-00094female946,XX,r(22)(p11q13), arr[hg19] 22q13.31q13.33(47377174_51183871)x1developmental delay, severe autism, dysmorphic facial features, hypotoniaDe novo
cRC-22-00070male2mos 46,XY,r(22)(p11q13)[84]/45,XY,-22[6] arr[hg19] 22q13.33(49612799_51211392)x1developmental delay, , speech difficulty De novo
cRC-22-00069male346,XY,r(22)(p11q13), arr[hg19] 21q13.33(44183172_51211392)x1developmental delay, dq:42, ataxic gait, speech difficultyDe novo
cRC-22-00068male2946,XY,r(22)(p11q13)infertility, aspermian/a
cRC-22-00067male046,XY,r(22)(p12q13)developmental delay, slow reflex, poor hearing, hypotonia, dysmorphic facial featuresParental denial
cRC-22-00066female246,XX,r(22)(p12q13)sensorineural hearing loss, hypotonia, cannot walk and speak n/a
cRC-22-00065female746,XX,r(22)(p11.2q13.3)intellectual disability, ataxi gait, hypotonia, dysmorphic facial featuresDe novo
cRC-22-00064female146,XX,r(22)intellectual disability De novo

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Summary

Figure.1 The frequency of symptoms in case(s) of ring chromosome  22

Figure.2 The gender distribution in case(s) of ring chromosome 22

 
The more summary of the chromosome is not available yet.
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