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Isochromosome 22 in trisomy 22 mosaic with five cell lines
Carol Guzé1, Naigeng Qin, JoAnn Kelly
1Genetics Unit, Department of Obstetrics and Gynecology, King Drew Medical Center, 12021 S. Wilmington Avenue, Los Angeles, CA 90059, USA. carol@carolguze.com
American Journal of Medical Genetics. Part A
|December 18, 2003
Abstract:
This report describes a full-term male infant with trisomy 22 due to an isochromosome 22. Prenatal diagnosis with amniotic fluid showed two cell lines, one with an isochromosome 22 and the other with a deleted isochromosome 22. Subsequent cytogenetic analyses of cord blood, umbilical cord tissue, and placenta revealed additional cell lines. A normal cell line was found in umbilical cord tissue and two of three placental sites. The newborn had numerous dysmorphic features and died within 48 hrs of birth.