UNIQUE MOSAICISM OF TETRAPLOIDY AND TRISOMY-8 - CLINICAL, CYTOGENETIC, AND MOLECULAR FINDINGS IN A LIVE-BORN INFANT

We report on a live-born infant with mosaicism of tetraploidy and tris omy 8 who had craniofacial abnormalities, cardiac and genitourinary de fects, agenesis of the corpus callosum, and anomalies of limbs. The in fant died at age 14 weeks, Molecular studies were done on peripheral b lood lymphocytes and cultured amniocytes to determine the origin of th e cytogenetic abnormalities, On the basis of the results, we describe a possible mechanism to explain these abnormalities. To our knowledge, this infant represents the first reported case of mosaic trisomy 8 wi th a tetraploid cell line. (C) 1996 Wiley-Liss, Inc.