Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Venegas-Vega, Carlos A., Fernández-Ramírez, Fernando, Zepeda, Luis M., Nieto-Martínez, Karem, Gómez-Laguna, Laura, Garduño-Zarazúa, Luz M., Berumen, Jaime, Kofman, Susana, Cervantes, Alicia
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi Publishing Corporation 2013
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581116/
https://ncbi.nlm.nih.gov/pubmed/23484094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/209204
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