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Familial supernumerary marker chromosome evolution through three generations.

Publication ,  Journal Article
Adhvaryu, SG; Peters-Brown, T; Livingston, E; Qumsiyeh, MB
Published in: Prenat Diagn
February 1998

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.

Duke Scholars

Published In

Prenat Diagn

DOI

ISSN

0197-3851

Publication Date

February 1998

Volume

18

Issue

2

Start / End Page

178 / 181

Location

England

Related Subject Headings

  • Ring Chromosomes
  • Prenatal Diagnosis
  • Pregnancy Outcome
  • Pregnancy
  • Obstetrics & Reproductive Medicine
  • Male
  • Lymphocytes
  • In Situ Hybridization, Fluorescence
  • Humans
  • Female
 

Citation

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Adhvaryu, S. G., Peters-Brown, T., Livingston, E., & Qumsiyeh, M. B. (1998). Familial supernumerary marker chromosome evolution through three generations. Prenat Diagn, 18(2), 178–181. https://doi.org/10.1002/(sici)1097-0223(199802)18:2<178::aid-pd233>3.0.co;2-g
Adhvaryu, S. G., T. Peters-Brown, E. Livingston, and M. B. Qumsiyeh. “Familial supernumerary marker chromosome evolution through three generations.Prenat Diagn 18, no. 2 (February 1998): 178–81. https://doi.org/10.1002/(sici)1097-0223(199802)18:2<178::aid-pd233>3.0.co;2-g.
Adhvaryu SG, Peters-Brown T, Livingston E, Qumsiyeh MB. Familial supernumerary marker chromosome evolution through three generations. Prenat Diagn. 1998 Feb;18(2):178–81.
Adhvaryu, S. G., et al. “Familial supernumerary marker chromosome evolution through three generations.Prenat Diagn, vol. 18, no. 2, Feb. 1998, pp. 178–81. Pubmed, doi:10.1002/(sici)1097-0223(199802)18:2<178::aid-pd233>3.0.co;2-g.
Adhvaryu SG, Peters-Brown T, Livingston E, Qumsiyeh MB. Familial supernumerary marker chromosome evolution through three generations. Prenat Diagn. 1998 Feb;18(2):178–181.
Journal cover image

Published In

Prenat Diagn

DOI

ISSN

0197-3851

Publication Date

February 1998

Volume

18

Issue

2

Start / End Page

178 / 181

Location

England

Related Subject Headings

  • Ring Chromosomes
  • Prenatal Diagnosis
  • Pregnancy Outcome
  • Pregnancy
  • Obstetrics & Reproductive Medicine
  • Male
  • Lymphocytes
  • In Situ Hybridization, Fluorescence
  • Humans
  • Female