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

• Published in: Cytogenetic and genome research Vol. 136; no. 3; pp. 229 - 234
• Main Authors: Ponnala, R., Ranganath, P., Dutta, U.R., Pidugu, V.K., Dalal, A.B.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.04.2012
• Subjects: Breakpoints; Case Report; Case reports; chromosome 18; Chromosome Aberrations; Chromosome Banding; Chromosomes; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 2; Fluorescence in situ hybridization; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Infants; Karyotyping; Male; Phenotype; Trisomy; Chromosomal insertion-duplication; Trisomy 2q31.1–q37.3
• ISSN: 1424-8581; 1424-859X
• DOI: 10.1159/000336974

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.