The Principles of Clinical Cytogenetics - Extra Materials - Springer

Genomic Imprinting and Uniparental Disomy 531
• Confined placental mosaicism (CPM) (see Chapter 12) with a trisomic cell line for chromosomes
6, 7, 11, 14, or 15 (and possibly also 16) found in chorionic villus sampling but only normal cells
in amniotic fluid
• The presence of a supernumerary marker chromosome originating from one of these chromosomes
• De novo or familial Robertsonian translocations (see Chapters 3 and 9) involving chromosomes
14 or 15, especially when homologous
• Abnormal prenatal ultrasound findings of features seen in known UPD syndromes
ACKNOWLEDGMENTS
I am grateful to Dr. David Wang for preparation of the diagrams. I also thank Jo Ann Rieger for
her assistance with preparation of the manuscript.
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