Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter

Carlos A. Tirado, Samuel Henderson, Naseem Uddin, Ewa Stewart, Santha Iyer, Ian M. Ratner, Erin Matthews, Jeffrey Doolittle, Rolando Garcia, Federico Valdez, Stephanie Dallaire, Taylor Appleberry, Deborah Payne, Robert Collins

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2507-2512
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number11
DOIs
StatePublished - Nov 1 2009

Keywords

  • CGH
  • FISH
  • Inverted duplication 2p
  • Partial trisomy 2
  • Terminal deletion 2pter

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Tirado, C. A., Henderson, S., Uddin, N., Stewart, E., Iyer, S., Ratner, I. M., Matthews, E., Doolittle, J., Garcia, R., Valdez, F., Dallaire, S., Appleberry, T., Payne, D., & Collins, R. (2009). Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter. American Journal of Medical Genetics, Part A, 149(11), 2507-2512. https://doi.org/10.1002/ajmg.a.33080