Familial supernumerary marker chromosome evolution through three generations.

Journal Article (Journal Article)

A mosaic chromosome complement, 46,XY/47,XY,+r(15), was detected at prenatal diagnosis. Family studies showed the mother and one of her two children to have a bisatellited supernumerary marker chromosome (SMC) in all lymphocytes examined. The maternal grandfather also showed a bisatellited SMC, but in only 2 per cent of his lymphocytes. NOR, DA/DAPI, and chromosome 15 centromere and short arm-specific probes confirmed the identify of the bisatellited SMC and of ring SMC as derived from chromosome 15. An apparently normal male was born at full term. At age 1 year, the baby continues to have normal growth and development. The bisatellited 15 likely originated by somatic mutation in the grandfather (2 per cent cells), was transmitted unchanged to the daughter and grandson (germline transmission, no mosaicism), and then evolved by excising the satellites and forming a ring SMC in the index case. Progressive changes in the frequency and subsequent changes in the structure of this SMC illustrate the unusual characteristics of chromosome 15.

Full Text

Duke Authors

Cited Authors

  • Adhvaryu, SG; Peters-Brown, T; Livingston, E; Qumsiyeh, MB

Published Date

  • February 1998

Published In

Volume / Issue

  • 18 / 2

Start / End Page

  • 178 - 181

PubMed ID

  • 9516020

International Standard Serial Number (ISSN)

  • 0197-3851

Digital Object Identifier (DOI)

  • 10.1002/(sici)1097-0223(199802)18:2<178::aid-pd233>3.0.co;2-g


  • eng

Conference Location

  • England