Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome

KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to...

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Detalles Bibliográficos
Autores principales: Baris, Hagit N, Chan, Wai-Man, Andrews, Caroline, Behar, Doron M, Donovan, Diana J, Morton, Cynthia C, Ranells, Judith, Pal, Tuya, Ligon, Azra H, Engle, Elizabeth C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885256/
https://www.ncbi.nlm.nih.gov/pubmed/24416505
http://dx.doi.org/10.1002/ccr3.11
Descripción
Sumario:KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease.

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