Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat

BACKGROUND: Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnor...

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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Meza-Espinoza, Juan Pablo, Sáinz González, Enrique, León-León, Christian J. N., Arámbula-Meraz, Eliakym, Contreras-Gutiérrez, José Alfredo, García-Magallanes, Noemí, Madueña-Molina, Jesús, Luque-Ortega, Fred, Cervín-Serrano, Salvador, Picos-Cárdenas, Verónica Judith
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7236877/
https://ncbi.nlm.nih.gov/pubmed/32467733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-020-00484-4
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