title: Phenotypic and molecular characterization of partial trisomy 2q resulting from insertion-duplication in chromosome 18q: a case report and review of literature.
abstract: Trisomy 2q is a well-documented chromosomal anomaly with considerable variation in the phenotype depending upon the breakpoints and the co-existing chromosomal aberrations. The case of a dysmorphic male infant found to have trisomy of the 2q31.1-q37.3 segment, resulting from insertion-duplication of this segment in chromosome 18q23 is reported here. The rearrangement was resolved in detail by cytogenetic microarray and whole chromosome paint-based fluorescence in situ hybridization studies. There is some overlap of the phenotypic features in the reported patient with those described in previously reported cases with partial trisomy 2q. A detailed review of the available literature on 2q trisomy has also been presented and delineation of the phenotypic characteristics common to all patients with 2q trisomy has been attempted.
authors.affiliation: Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
authors.forename: R
authors.initials: R
authors.lastname: Ponnala
authors.forename: P
authors.initials: P
authors.lastname: Ranganath
authors.forename: U R
authors.initials: UR
authors.lastname: Dutta
authors.forename: V K
authors.initials: VK
authors.lastname: Pidugu
authors.forename: A B
authors.initials: AB
authors.lastname: Dalal
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy