Autism Spectrum Disorder in a Girl with a De Novo X;19 Balanced Translocation

Autor: Marcelo Razera Baruffi, Deise Helena de Souza, Rosana Aparecida Bicudo da Silva, Ester Silveira Ramos, Danilo Moretti-Ferreira

Publikováno v: Case Reports in Genetics, Vol 2012 (2012)

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities

Externí odkaz: https://doaj.org/article/d1df6b0d2918418a848d5b588e431aed

Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay

Autor: T. M. Joaquim, Danilo Moretti-Ferreira, Rosana Aparecida Bicudo da Silva, Jakeline Santos Oliveira, Deise Helena de Souza, Lúcia Regina Martelli

Publikováno v: Genetics and Molecular Biology v.43 n.1 2020
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758f561ac7bd845e49b481272e8f9403
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103

[PROVISIONAL] Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay

Autor: Jakeline Santos Oliveira, Tatiana Mozer Joaquim, Rosana Aparecida Bicudo da Silva, Deise Helena de Souza, Lúcia Regina Martelli, Danilo Moretti-Ferreira

Publikováno v: Genetics and Molecular Biology

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 anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::d57dc14c38b83290125b8f0a89a29724
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005034101&lng=en&tlng=en