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Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Autor: Aixiang Luo, Dehua Cheng, Shimin Yuan, Haiyu Li, Juan Du, Yang Zhang, Chuanchun Yang, Ge Lin, Wenyong Zhang, Yue-Qiu Tan

Publikováno v: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)

Abstract Background 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the numbe

Externí odkaz: https://doaj.org/article/286d938fad5f47fc954147c054fb3c7f

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

Autor: Juan Du, Chuanchun Yang, Shimin Yuan, Wenyong Zhang, Haiyu Li, Aixiang Luo, Dehua Cheng, Ge Lin, Yue-Qiu Tan, Yang Zhang

Publikováno v: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Molecular Cytogenetics

Background 1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::573c31415d658032c83dd7ac2a88741b
http://link.springer.com/article/10.1186/s13039-018-0371-7

Pure Duplication of 19p13.3 in Three Members of a Family with Intellectual Disability and Literature Review. Definition of a New Microduplication Syndrome

Autor: Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, MARTINEZ, F.

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

This paper describes the presence of an interstitial pure duplication of 19p13.3 (4.95Mb) in a patient with intellectual disability studied by array-CGH which was initially considered as a de novo alteration. The discovery of the same chromosomal alt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::d91e94a3ffbef2e40d375aaea35e6330
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1817

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