A.B. Dalal

Angel B

Balikova I

Barnicoat AJ

Barrett MT

Bird LM

Bonaglia MC

Cody JD

Dostal A

Elbracht M

Fan YS

Feenstra I

Fritz B

Hermsen MA

Linnankivi T

Matos A

McEntagart M

P. Ranganath

R. Ponnala

Romain DR

Sebold CD

Seidahmed MZ

Slavotinek AM

Tinkle BT

U.R. Dutta

V.K. Pidugu

Veltman JA

Vera-Carbonell A

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.</jats:p

Crossref

Cytogenetic and Genome Research

Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion-Duplication in Chromosome 18q: A Case Report and Review of Literature

Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion-Duplication in Chromosome 18q: A Case Report and Review of Literature

Abstract

Similar works

Full text

Available Versions

Crossref