[PROVISIONAL] Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay
Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation i...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Sociedade Brasileira de Genética
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Series: | Genetics and Molecular Biology |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005034101&lng=en&tlng=en |