[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: | Jakeline Santos Oliveira, Tatiana Mozer Joaquim, Rosana Aparecida Bicudo da Silva, Deise Helena de Souza, Lúcia Regina Martelli, Danilo Moretti-Ferreira |
---|---|
Format: | Article |
Language: | English |
Published: |
Sociedade Brasileira de Genética
|
Series: | Genetics and Molecular Biology |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005034101&lng=en&tlng=en |
Similar Items
-
Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay—Does both possibly act to modulate a candidate gene region for the patient’s phenotype?
by: Rahma Touhami, et al.
Published: (2023-01-01) -
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
by: I. Maini, et al.
Published: (2018-03-01) -
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
by: Martina Busè, et al.
Published: (2017-07-01) -
19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
by: Nacinovich R, et al.
Published: (2017-10-01) -
Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism
by: J.A. Avina Fierro, et al.
Published: (2016-01-01)