An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line.

Abstract excerpt

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY, +r(20)/47,XY, +20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with...

Topics

• Cell Line
• Chromosomes, Human, Pair 20
• Follow-Up Studies
• Genetic Markers
• Humans
• Infant
• Karyotyping
• Male
• Mosaicism
• Phenotype
• Prenatal Diagnosis
• Ring Chromosomes