Secondary trisomy or mosaic 'tetrasomy' 8p

M. Robinow, N. Haney, H. Chen, T. Sorauf, D. L. Van Dyke, V. R. Babu, S. Powell, W. Maliszewski, S. Guerin, J. W. Landers

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

We report on two patients with mosaic tetrasomy of 8p[46,XY/47,XY,+i(8p)], a previously unreported cytogenetic anomaly. The first patient had a low percentage of tetrasomic (secondary trisomic) cells in lymphocytes and fibroblasts, an only mildly abnormal phenotype, and a rather benign clinical course. The second patient had a considerably larger percentage of tetrasomic cells in lymphocytes and fibroblasts, and had more severe congenital anomalies that led to his death at 8 months. A characteristic phenotype +i(8p) is suggested but not yet established. The manifestations of these two patients resemble those of mosaic trisomy 8 and mosaic trisomy 8p, with rib and vertebral abnormalities, absent corpus callosum, and enlarged cerebral ventricles.

Original languageEnglish (US)
Pages (from-to)320-324
Number of pages5
JournalAmerican journal of medical genetics
Volume32
Issue number3
DOIs
StatePublished - Jan 1 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Robinow, M., Haney, N., Chen, H., Sorauf, T., Van Dyke, D. L., Babu, V. R., Powell, S., Maliszewski, W., Guerin, S., & Landers, J. W. (1989). Secondary trisomy or mosaic 'tetrasomy' 8p. American journal of medical genetics, 32(3), 320-324. https://doi.org/10.1002/ajmg.1320320309