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- W2359537027 abstract "Objective The aim of this research is to narrow down the genetic abnormalities of the trisomy 12p syndrome in order to identify the candidate gene of the disease.Methods a 13-month old boy with mental retardation and the characteristic facial appearance of patients with the trisomy 12p syndrome was examined.To address whether the child possessed three copies of 12p or a portion of 12p region,we determined the patients karyotype using cytogenetics methodologies,including the conventional G-banding,high resolution banding,and fluorescence in situ hybridization(FISH) methods.The patient's parents' karyotypes were also examined.Results The infant's partial trisomy 12p was originated from his mother's balanced translocation.These defects in eyelid development might be resulted from de novo chromosome abnormalities with the insertion sites of a trisomy fragment(repeating fragment) being at either 12p13.2 or 13.1,as these patients' parents all display normal karyotype.Because patients with complete trisomy 12p or their chromosome breaking points of trisomy 12p that lie outside the 12p13 region did not show small eyelid or without eyelid.Taken together,it was tempting to conclude that these defects in eyelid development might not be caused by changes in gene doses,but rather resulted from breaking points occurred at the 12p13 region.These breaking points might affect the expression of critical genes that play essential roles during eyelid development.Conclusions The phenotype of trisomy 12p may be associated with express and function of gene at special chromosome region.Further examination of the existence of critical candidate genes whose abnormalities cause trisomy 12p syndrome will need to precisely map the break and insert sites involved in trisomy 12p." @default.
- W2359537027 created "2016-06-24" @default.
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- W2359537027 date "2011-01-01" @default.
- W2359537027 modified "2023-09-24" @default.
- W2359537027 title "Cytogenetic and molecular genetics and phenotype analysis of a patient with partial trisomy 12p" @default.
- W2359537027 hasPublicationYear "2011" @default.
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