Deletion of 2q37 and duplication of 10q24: Two cases in the same family and review of the literature

A. Wiktor, G. L. Feldman, E. V. Bawle, P. Czarnecki, J. V. Conard, D. L. Van Dyke

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We describe two patients (first cousins, once removed) with an unusual head shape, high arched palate, flat nasal bridge, abnormal ears, hand and feet abnormalities and other anomalies. The patients were ascertained independently and it was initially unknown that they were related to each other. Cytogenetic and fluorescent in situ hybridization (FISH) analysis identified a der(2)t(2;10)(q37.3;q24.1) unbalanced translocation resulting in loss of 2q37.3-qter and duplication 10q24.1-qter. The clinical features of these two patients are compared with previously described cases of 2q deletion and 10q duplication. These patients also emphasize the difficulty in some families of understanding and sharing genetic information and in the difficulties in obtaining an accurate pedigree in a genetics clinic.

Original languageEnglish (US)
Pages (from-to)129-134
Number of pages6
JournalAnnales de Genetique
Volume44
Issue number3
DOIs
StatePublished - Jan 1 2001

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Keywords

  • 2q deletion
  • Duplication 10q
  • Fluorescent in situ hybridization (FISH)

ASJC Scopus subject areas

  • Genetics

Cite this

Wiktor, A., Feldman, G. L., Bawle, E. V., Czarnecki, P., Conard, J. V., & Van Dyke, D. L. (2001). Deletion of 2q37 and duplication of 10q24: Two cases in the same family and review of the literature. Annales de Genetique, 44(3), 129-134. https://doi.org/10.1016/S0003-3995(01)01083-8