Molecular studies of a translocated (X;22) DiGeorge patient using somatic cell hybridization

P. Couillin, J. Zucman, E. Le Guern, I. Reguigne, M. C. Grisard, O. Delattre, G. Novelli, B. Dallapiccola, A. Boue

Research output: Contribution to journalArticlepeer-review

Abstract

In order to better characterize the chromosomic rearrangement of an unbalanced 45XX t(X;22) (q28;q11) DiGeorge patient, a somatic hybrid clone segregating the translocated chromosome was constructed and investigated using X and 22 linked markers. Our study demonstrated that this de novo translocation was from paternal origin. The breakpoint was assigned between DXS296 and IDS loci at Xq28 and between D22S9 and BCRL2 at 22q11. This observation and published data allow to locate a 'critical region' for DiGeorge syndrome between these two last loci on 22q11. Our hybrid clone may be a useful tool for mapping new probes arising in this region.

Original languageEnglish
Pages (from-to)140-145
Number of pages6
JournalAnnales de Genetique
Volume35
Issue number3
Publication statusPublished - 1992

Keywords

  • chromosomes X and 22 mapping
  • DiGeorge syndrome
  • somatic hybridization
  • X inactivation
  • X;autosome translocation

ASJC Scopus subject areas

  • Genetics

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