Cargando…
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581116/ https://www.ncbi.nlm.nih.gov/pubmed/23484094 http://dx.doi.org/10.1155/2013/209204 |
Ejemplares similares
-
Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
por: Pokale, Yamini S., et al.
Publicado: (2012) -
Phenotypic Variations in Wolf-Hirschhorn Syndrome
por: Sukarova-Angelovska, E, et al.
Publicado: (2014) -
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype
por: Venegas-Vega, Carlos, et al.
Publicado: (2014) -
Wolf–Hirschhorn (4p-) syndrome with West syndrome
por: Motoi, Hirotaka, et al.
Publicado: (2016) -
Airway Management in a Patient with Wolf-Hirschhorn Syndrome
por: Gamble, John F., et al.
Publicado: (2016)