A novel insertion from chromosome 18 to chromosome 15 with a 183Kb 18q deletion

Chromosome 18q- syndrome is a rare chromosomal disorder with an incidence of 1 in 40 000 live births. The phenotype is highly variable, depending on the amount of deleted genetic material, and is characterized by mental retardation, developmental delay, hypotonia, seizures, obesity, abnormal behavio...

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Bibliographic Details
Main Author: Pinto Leite, Rosário (author)
Other Authors: Souto, Marta (author), Botelho, Pedro (author), Pereira, Fernanda (author), Marques, Bárbara (author), Correia, Hildeberto (author), Moutinho, Osvaldo (author), Martins, Márcia (author)
Format: conferenceObject
Language:eng
Published: 2018
Subjects:
Chromosome 18q- syndrome
SETBP1
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/5229
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5229

Internet

http://hdl.handle.net/10400.18/5229

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