title: Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics.
abstract: 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.
authors.affiliation: Cytogenetics Laboratory, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA. zhong.chen@hsc.utah.edu
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: Meloni-Ehrig
authors.forename: J C
authors.initials: JC
authors.lastname: Palumbos
authors.forename: X Y
authors.initials: XY
authors.lastname: Guan
authors.forename: K L
authors.initials: KL
authors.lastname: Carroll
authors.forename: K M
authors.initials: KM
authors.lastname: Dent
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005784:Gene Amplification / Q000235:genetics; D006801:Humans; D007223:Infant; D012303:Ring Chromosomes; D014314:Trisomy / Q000235:genetics*