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A Case Database of Human Ring Chromosome
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 Introduction

    constitutional ring chromosomes are a rare type of intra-chromosome structural abnormality with an estimated occurrence of 1 in 50,000 newborns. a ring chromosome is resulted from breakage and fusion at the telomeric or distal regions of both chromosome arms; this circular chromosome replaces one normal chromosome and presents unique mitotic behavior. structurally, ring chromosomes are divided into two types: a complete ring chromosome without loss of genetic materials by telomere-telomere fusion or an incomplete ring with distal or interstitial deletions and duplications by one or multiple fusion events constitutional ring chromosomes are rare orphan chromosomal disorders. to compile and curate cytogenomic and phenotypic findings of these rare disorders, a web-based interactive `human ring chromosome registry¨ using microsoft access based relational


    
Results of ring 13 from cytogenomic analyses

database was developed.

 Current Status

    A total of 113 cases of ring chromosomes from 1 country/countries were retrieved in 21 chromosomes. The most frequently seen ring chromosomes by a decreasing order of relative frequencies were ring chromosomes 13(14.2%), X(11.5%), 22(9.7%), 15(8.8%), 18(7.1%), and 14(7.1%). Genomic imbalances were detected in 31 cases analyzed by molecular analysis. Clinical manifestations of developmental delay (53/113), dysmorphic facial features (43/113), intellectual disability (33/113), microcephaly (28/113), hypotonia (19/113), and short stature (15/113) were noted as ring chromosome syndrome in most ring chromosomes.

Update: 2017-06-21 05:14:51      


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 Data Sets
 Cases:    113
 Ring chromosomes:    21 ( 13, X, 22, 15, 18, 14, ...)
 Country/Countries:     1 (China)
 Clinical features:    152 (developmental delay, dysmorphic facial features, intellectual disability, microcephaly, hypotonia, short stature, ...)
 Materials:    5 (peripheral blood, amniotic fluid, fibroblast, prenatal umbilical cord blood(pub), poc, ...)
 Methods:     13 (karyotype, fish, affymetrix chip, array-cgh, mlpa, ...)
 Cytogenomic findings:    108
 Inheritance:     6 (parental n/a, no family history , no familial history of abortions , parental denial , ...)
   
 Pictures:    9
 Glossary:    147
 References:    104

 Citing this website
    Hu Q, Chai H, Shu W, Li P.. Human ring chromosome registry for cases in the Chinese population re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies. Mol Cytogenet. 2018;11:19.
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