Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.

Journal Article (Journal Article;Review)

A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids.

Full Text

Duke Authors

Cited Authors

  • Wang, J; Reddy, KS; Wang, E; Halderman, L; Morgan, BL; Lachman, RS; Lin, HJ; Cornford, ME

Published Date

  • February 12, 1999

Published In

Volume / Issue

  • 82 / 4

Start / End Page

  • 312 - 317

PubMed ID

  • 10051164

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/(sici)1096-8628(19990212)82:4<312::aid-ajmg7>3.0.co;2-9

Language

  • eng

Conference Location

  • United States