PMID: 11503167Aug 15, 2001Paper

Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics

American Journal of Medical Genetics
Z ChenJ C Carey


With the use of advanced molecular cytogenetic techniques, we have identified an extra ring chromosome consisting of the entire short arm of chromosome 10 (10p) in a 9-month-old girl with multiple congenital anomalies. This case represents another cytogenetic mechanism leading to the formation of pure complete trisomy 10p, which has not been reported previously. Pure trisomy 10p is rare. This case will further delineate those features associated with trisomy 10p.


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Related Concepts

Multiple Congenital Anomalies
Chromosomes, Human, Pair 10
Gene Amplification
Ring Chromosomes
Partial Trisomy
Cytogenetic Analysis

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