A molecular anatomical analysis of mosaic trisomy 16

John M. Greally, Katherine Neiswanger, James H. Cummins, Leslie Y. Boone, Sharen G. Lenkey, Sharon L. Wenger, Jennifer L. Lewis, Donald Fischer, Richard A. Paul, Mark W. Steele

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

A one-month-old child presenting with an aortic coarctation was found to have a left single transverse palmar crease and proportionate growth delay on physical examination, prompting a peripheral blood chromosome analysis. This showed a mosaic trisomy of chromosome 16, subsequently observed to decrease with the passage of time. As her phenotype was relatively benign, further analysis was performed to define more precisely the extent of her mosaicism given the supposedly lethal nature of the aneuploid cell line. Fluorescence in situ hybridisation and CA repeat polymorphism studies demonstrated the aneuploidy in multiple tissues, including the structurally affected aorta. Molecular analysis showed both maternal chromosomes 16 to be present in the trisomic cells, but maternal heterodisomy was not present in the diploid cells. Given the increasing number of individuals described with aneuploid mosaicism, we suggest that the study of multiple tissues is a necessary approach, the eventual goal being the appreciation of the relationship between the characteristics of a somatic mosaicism and the phenotype it imparts.

Original languageEnglish (US)
Pages (from-to)86-90
Number of pages5
JournalHuman Genetics
Volume98
Issue number1
DOIs
StatePublished - Jul 1996
Externally publishedYes

Fingerprint

Mosaicism
Aneuploidy
Mothers
Phenotype
Chromosomes, Human, Pair 16
Aortic Coarctation
Diploidy
Fluorescence In Situ Hybridization
Physical Examination
Aorta
Chromosomes
Cell Line
Growth
Trisomy Chromosome 16

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Greally, J. M., Neiswanger, K., Cummins, J. H., Boone, L. Y., Lenkey, S. G., Wenger, S. L., ... Steele, M. W. (1996). A molecular anatomical analysis of mosaic trisomy 16. Human Genetics, 98(1), 86-90. https://doi.org/10.1007/s004390050165

A molecular anatomical analysis of mosaic trisomy 16. / Greally, John M.; Neiswanger, Katherine; Cummins, James H.; Boone, Leslie Y.; Lenkey, Sharen G.; Wenger, Sharon L.; Lewis, Jennifer L.; Fischer, Donald; Paul, Richard A.; Steele, Mark W.

In: Human Genetics, Vol. 98, No. 1, 07.1996, p. 86-90.

Research output: Contribution to journalArticle

Greally, JM, Neiswanger, K, Cummins, JH, Boone, LY, Lenkey, SG, Wenger, SL, Lewis, JL, Fischer, D, Paul, RA & Steele, MW 1996, 'A molecular anatomical analysis of mosaic trisomy 16', Human Genetics, vol. 98, no. 1, pp. 86-90. https://doi.org/10.1007/s004390050165
Greally JM, Neiswanger K, Cummins JH, Boone LY, Lenkey SG, Wenger SL et al. A molecular anatomical analysis of mosaic trisomy 16. Human Genetics. 1996 Jul;98(1):86-90. https://doi.org/10.1007/s004390050165
Greally, John M. ; Neiswanger, Katherine ; Cummins, James H. ; Boone, Leslie Y. ; Lenkey, Sharen G. ; Wenger, Sharon L. ; Lewis, Jennifer L. ; Fischer, Donald ; Paul, Richard A. ; Steele, Mark W. / A molecular anatomical analysis of mosaic trisomy 16. In: Human Genetics. 1996 ; Vol. 98, No. 1. pp. 86-90.
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