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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 patien's mother does not exclude maternal mosaicism as the basis for polyploidy in certain instances.<\/jats:p>","DOI":"10.1002\/ajmg.1320190106","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:50:11Z","timestamp":1118519411000},"page":"29-37","source":"Crossref","is-referenced-by-count":38,"title":["Tetraploidy: A report of three live\u2010born infants"],"prefix":"10.1002","volume":"19","author":[{"given":"Paula R.","family":"Scarbrough","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Hersh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary K.","family":"Kukolich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew J.","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara C.","family":"Finley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Hochberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirley","family":"Wilkerson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. 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