Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting

Jacqueline R. Batanian, Yufeng Huang, Gary S. Gottesman, Dorothy K. Grange, Alfreda V. Blasingame

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

We report on the use of fluorescence in situ hybridization (FISH) with specific chromosome 8 arm painting to characterize further small supernumerary chromosome 8-derived markers/rings (SMC/SRC) identified in three patients. Two patients (patients 1 and 2) who carried the marker (SMC) were evaluated because of mental retardation and minor facial anomalies. The patient (patient 3) who carried the ring (SRC) had ventriculomegaly. Parental blood chromosomes of patients 2 and 3 were normal and unavailable on patient 1. The identification of the SMC/SRC was first characterized by FISH specific alpha-repeat centromeric probes, second by FISH whole chromosome painting (WCP), and finally by FISH chromosome arm painting (CAP). The latter showed involvement of only the short arm of chromosome 8 in all three SMC/SRC cases, suggesting a U-type exchange mechanism. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)276-282
Number of pages7
JournalAmerican journal of medical genetics
Volume90
Issue number4
DOIs
StatePublished - Feb 17 2000
Externally publishedYes

Keywords

  • Partial tetrasomy 8p
  • Partial trisomy 8p
  • Supernumerary marker chromosome 8
  • Supernumerary ring chromosome 8

Fingerprint Dive into the research topics of 'Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting'. Together they form a unique fingerprint.

Cite this