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

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AudienciaPúblico en generales_ES
CoberturaMéxicoes_ES
Fecha de ingreso2026-10-05T16:33:26Z
Fecha de publicación2024-01-01
ResumenBackground 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 history of epileptic seizures since the age of 1.5 years presented with distinctive craniofacial features, including a prominent and narrow forehead, sparse and short eyebrows, palpebral ptosis, horizontal palpebral fissures, a broad nasal bridge, a prominent nasal tip, a flat philtrum, hypertelorism, midfacial hypoplasia, horizontal labial fissures, a thin upper lip, crowded teeth, an ogival palate, retrognathia, and a wide neck. Additional physical abnormalities included kyphosis, lumbar scoliosis, pectus carinatum, cubitus valgus, thenar and hypothenar hypoplasia, bilateral hallux valgus, shortening of the Achilles tendon on the left foot, and hypoplasia of the labia minora. Chromosomal analysis identified a ring 14 chromosome with breakpoints in p11 and q32.33. An aCGH study revealed a similar to 1.7 Mb deletion on chromosome 14qter, encompassing 23 genes. Genomic instability was evidenced by the presence of micronuclei and aneuploidies involving the ring and other chromosomes. Conclusion The clinical features of our patient closely resembled those observed in other individuals with ring chromosome 14 syndrome. The most important point was that we were able to verify an instability of the r(14) chromosome, mainly involving anaphasic lags and its exclusion from the nucleus in the form of a micronucleus.es_ES
Doihttps://doi.org/10.1186/s13039-024-00686-0es_ES
URIhttps://riuat.uat.edu.mx/handle/123456789/5279
Idiomaenes_ES
EditorialBMCes_ES
RelaciónMolecular Cytogeneticses_ES
URL relacionadohttps://doi.org/10.1186/s13039-024-00686-0es_ES
DerechosAcceso abierto (Metadatos de producción científica)es_ES
Licenciahttp://purl.org/coar/access_right/c_abf2es_ES
FuenteMolecular Cytogenetics
Palabra claveRing chromosome 14 syndromees_ES
Palabra claveChromosomal instabilityes_ES
Palabra claveDynamic mosaicismes_ES
TítuloChromosomal instability in a patient with ring chromosome 14 syndrome: a case reportes_ES
TipoArtículoes_ES
ArbitradoHa sido Arbitradoes_ES
AutorMeza-Espinoza, Juan Pablo
AutorGonzalez-Garcia, Juan Ramon
AutorNieto-Marin, Nayeli
AutorPatron-Baro, Liliana Itzel
AutorGonzalez-Arreola, Rosa Maria
AutorArambula-Meraz, Eliakym
AutorBenitez-Pascual, Julio
AutorDe la Herran-Arita, Alberto Kousuke
AutorNorzagaray-Valenzuela, Claudia Desiree
AutorValdez-Flores, Marco Antonio
AutorCarrillo-Cazares, Tomas Adrian
AutorPicos-Cardenas, Veronica Judith
AutorMeza-Espinoza, Juan Pabloes_ES
AutorGonzalez-Garcia, Juan Ramones_ES
AutorNieto-Marin, Nayelies_ES
AutorPatron-Baro, Liliana Itzeles_ES
AutorGonzalez-Arreola, Rosa Mariaes_ES
AutorArambula-Meraz, Eliakymes_ES
AutorBenitez-Pascual, Julioes_ES
AutorDe la Herran-Arita, Alberto Kousukees_ES
AutorNorzagaray-Valenzuela, Claudia Desireees_ES
AutorValdez-Flores, Marco Antonioes_ES
AutorCarrillo-Cazares, Tomas Adrianes_ES
AutorPicos-Cardenas, Veronica Judithes_ES
InstituciónUniversidad Autónoma de Tamaulipas
InstituciónUniversidad Autónoma de Tamaulipases_ES
Número1es_ES
URL relacionadahttps://doi.org/10.1186/s13039-024-00686-0
Tipo de artículoIndexado
Tipo de artículoIndexadoes_ES
Volumen17es_ES

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