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Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic as...

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Detalles Bibliográficos
Autores principales: Sedghi, Maryam, Abdali, Hossein, Memarzadeh, Mehrdad, Salehi, Mansoor, Nouri, Narges, Hosseinzadeh, Majid, Nouri, Nayereh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660028/
https://www.ncbi.nlm.nih.gov/pubmed/26640714
http://dx.doi.org/10.1155/2015/398063