Identification of two de novo partial trisomies by comparative genomic hybridization

Ma Rigola, M. Carrera, I. Ribas, C. De La Iglesia, B. Mendez, J. Egozcue, C. Fuster

Research output: Contribution to journalArticleResearchpeer-review

6 Citations (Scopus)

Abstract

We report the use of comparative genomic hybridization (CGH) to define the extra chromosome region present in two de novo partial trisomies 15q25-qter and Xp21-pter, which could not be clarified by conventional G-banding. Investigation with fluorescence in situ hybridization (FISH) revealed that the partial trisomy corresponded to an unbalanced translocation between Y and 15 chromosomes in 1 patient and an unbalanced X/X reorganization in the other patient. The combination of classical karyotyping, CGH, and FISH is useful for the identification and characterization of partial trisomies in clinical diagnostic laboratories, in order to delineate the chromosome regions implicated in specific clinical disorders.
Original languageEnglish
Pages (from-to)106-110
JournalClinical Genetics
Volume59
DOIs
Publication statusPublished - 28 Mar 2001

Keywords

  • CGH
  • FISH
  • Partial trisomy 15q and partial trisomy Xp
  • Phenotype/genotype correlation

Fingerprint Dive into the research topics of 'Identification of two de novo partial trisomies by comparative genomic hybridization'. Together they form a unique fingerprint.

Cite this