Familial translocation (X;3)(p22.3;p23): Chromosomal in situ suppression (CISS) hybridization and inactivation pattern study

D. Bettio, N. Rizzi, D. Giardino

Research output: Contribution to journalArticle

Abstract

High-resolution chromosome banding and chromosomal in situ suppression hybridization were used to identify a derivative X in a 10-month-old female patient with congenital heart defect and slight dysmorphism. The unbalanced karyotype was monosomic for Xp22.3 pter and trisomic for 3p23-pter regions. The derivative X was inherited from the mother carrier of a balanced translocation (X;3)(p22.3;p23). Replication study of the patient showed the abnormal X,t(X;3) to be late replicating, except for the translocated segment. This patient demonstrated only epicanthus and congenital heart defect, despite her partial trisomy 3. The clinical phenotype may be less severe when the X-chromosome is involved in an unbalanced translocation.

Original languageEnglish
Pages (from-to)360-363
Number of pages4
JournalClinical Genetics
Volume46
Issue number5
Publication statusPublished - 1994

Keywords

  • Chromosome painting
  • Unbalanced t(X-Aut)
  • X-autosome translocation
  • X-inactivation pattern

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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