Tetraploidy: A report of three live-born infants

Academic Article


  • We present three live-born infants with tetraploidy and compare them with two previously reported live-born infants with the same genetic defect. Common anomalies noted included microcephaly; a prominent, narrow forehead; microphthalmia/anophthalmia; cleft palate; orthopedic anomalies; genital ambiguity; and abnormalities of the central nervous system, including pituitary hypoplasia. Together these constitute a rather characteristic phenotype. An error in cytoplasmic cleavage is theorized to be a mechanism for the chromosome anomaly and is supported by the presence of parental polymorphisms in one of our cases; however, the presence of a small percentage of tetraploid cells in the leukocytes and skin fibroblasts of this patient's mother does not exclude maternal mosaicism as the basis for polyploidy in certain instances.
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    Digital Object Identifier (doi)

    Author List

  • Scarbrough PR; Hersh J; Kukolich MK; Carroll AJ; Finley SC; Hochberger R; Wilkerson S; Yen FF; Althaus BW
  • Start Page

  • 29
  • End Page

  • 37
  • Volume

  • 19
  • Issue

  • 1