Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion.
Department of Genetics and Evolutionary Biology, Center for Human Genome Research, Institute of Biosciences, University of São Paulo, São Paulo, Brazil. cdangelo@ib.usp.br
Carla S
CS
D'Angelo
Mariana A
MA
de Oliveira
Claudia I E
CI
de Castro
Celia P
CP
Koiffmann
D002478:Cells, Cultured; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002890:Chromosomes, Human, Pair 20; D020732:Cytogenetic Analysis; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000166:cytology; D008677:Metaphase; D009030:Mosaicism; D009035:Mothers; D020641:Polymorphism, Single Nucleotide; D014314:Trisomy; D055815:Young Adult