title: Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter.
abstract: Partial trisomy 2p is typically associated with partial monosomy of another chromosomal segment and results from a balanced translocation in one of the parents. Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes. Several cases initially interpreted as terminal duplications have instead been documented to represent inverted duplications with terminal deletions. Inv dup del(2p) has been reported in patients who manifest the clinical findings of trisomy 2p syndrome. Here we report on a 2-month-old girl with inv dup del(2p) and clinical manifestations that overlap those found commonly in partial 2p trisomy, as previously reported in the literature. Her clinical picture helps delineate the phenotype of 2p duplication disorders.
authors.affiliation: Laboratory of Cytogenetics, Department of Pathology, UTSouthwestern Medical Center, Dallas, Texas 75235, USA. carlos1.tirado@UTSouthwestern.edu
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Tirado
authors.forename: Samuel
authors.initials: S
authors.lastname: Henderson
authors.forename: Naseem
authors.initials: N
authors.lastname: Uddin
authors.forename: Ewa
authors.initials: E
authors.lastname: Stewart
authors.forename: Santha
authors.initials: S
authors.lastname: Iyer
authors.forename: Ian M
authors.initials: IM
authors.lastname: Ratner
authors.forename: Erin
authors.initials: E
authors.lastname: Matthews
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Doolittle
authors.forename: Rolando
authors.initials: R
authors.lastname: Garcia
authors.forename: Federico
authors.initials: F
authors.lastname: Valdez
authors.forename: Stephanie
authors.initials: S
authors.lastname: Dallaire
authors.forename: Taylor
authors.initials: T
authors.lastname: Appleberry
authors.forename: Deborah
authors.initials: D
authors.lastname: Payne
authors.forename: Robert
authors.initials: R
authors.lastname: Collins
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D007446:Chromosome Inversion / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis / Q000379:methods*; D017809:Fatal Outcome; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics*