Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13： A Very Rare Case

The major mechanism for ring chromosome formation is thought to result from breakage and reunion at the breakpoints on the long and short arms of a chromosome.This fusion event can produce terminal arm inversions,deletions,and duplications that determine the resulting phenotype.[1] Ring chromosome 1...

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Bibliographic Details
Published in:Chinese medical journal 2017-12, Vol.130 (24), p.3007-3008
Main Authors: Zhao, Xin-Rong, Han, Xu, Wang, Yan-Lin, Hu, Wen-Jing
Format: Article
Language:English
Subjects:
Array-based Comparative Genomic Hybridization
Mosaicism
Ring Chromosome 13
Childrens health
Chromosomes
Clinical Challenge
Consent
Cytogenetics
Fetuses
Genotype & phenotype
Health aspects
Hybridization
Medicine
Peace
Pregnancy
Pregnant women
Prenatal development
Urogenital system
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Summary:The major mechanism for ring chromosome formation is thought to result from breakage and reunion at the breakpoints on the long and short arms of a chromosome.This fusion event can produce terminal arm inversions,deletions,and duplications that determine the resulting phenotype.[1] Ring chromosome 13 is relatively uncommon,with an estimated incidence of 1/58,000 live births.
ISSN:0366-6999
2542-5641
DOI:10.4103/0366-6999.220308