Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report

Abstract Background Ring chromosome 14 syndrome is a rare disorder primarily marked by early-onset epilepsy, microcephaly, distinctive craniofacial features, hypotonia, intellectual disability, and delay in both development and language acquisition. Case presentation A 21-year-old woman with a histo...

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Autors principals:	Juan Pablo Meza-Espinoza, Juan Ramón González-García, Nayeli Nieto-Marín, Liliana Itzel Patrón-Baro, Rosa María González-Arreola, Eliakym Arámbula-Meraz, Julio Benítez-Pascual, Alberto Kousuke De la Herrán-Arita, Claudia Desireé Norzagaray-Valenzuela, Marco Antonio Valdez-Flores, Tomás Adrián Carrillo-Cázares, Verónica Judith Picos-Cárdenas
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-07-01
Col·lecció:	Molecular Cytogenetics
Matèries:	Ring chromosome 14 syndrome Chromosomal instability Dynamic mosaicism
Accés en línia:	https://doi.org/10.1186/s13039-024-00686-0
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