A liveborn 69,XXX triploid. Origin, X chromosome activity and gene dosage

P. Maraschio, C. Danesino, F. Lo Curto, O. Zuffardi, T. Dalla Fior, D. Pedrotti

Research output: Contribution to journalArticlepeer-review

Abstract

A 69,XXX female liveborn triploid survived 45 days. The phenotype was consistent with the average clinical picture of liveborn triploids. Autopsy revealed slight atrophy of the cerebral cortex and corpus callosum and severe adrenal hypoplasia. Chromosome polymorphisms indicated that the origin of this triploid was dispermy. Replication studies of the X chromosome performed on lymphocytes and fibroblasts showed that the majority of cells had two late replicating X chromosomes. X chromosome inactivation in spontaneous abortuses and liveborn triploids is discussed. Nine enzymes encoded by autosomal genes were tested; five had normal, three increased, and one reduced levels of activity. The reduced activity of α-galactosidase, an X-linked enzyme, is in agreement with cytogenetic findings and demonstrated a gene dosage effect.

Original languageEnglish
Pages (from-to)96-101
Number of pages6
JournalAnnales de Genetique
Volume27
Issue number2
Publication statusPublished - 1984

ASJC Scopus subject areas

  • Genetics

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