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dc.contributor.authorRodríguez, Laura 
dc.contributor.authorMartinez-Fernandez, Maria Luisa 
dc.contributor.authorMansilla, Elena
dc.contributor.authorBlanco Soto, Paula
dc.contributor.authorMartín Sanz, Feliciano
dc.contributor.authorMartínez-Frías, María Luisa
dc.identifier.citationBoletín del ECEMC: Rev Dismor Epidemiol 2005; V (nº 4): 14-18es_ES
dc.descriptionDismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCes_ES
dc.description.abstractThe partial trisomy 7q is characterized by the presence of dysmorphic features, low birth weight, hypotonia, renal and skeletal anomalies, pulmonary hypoplasia and cardiac defects. The subtelomeric 20p monosomy, is a very rare anomaly which has only being reported in a patient with developmental delay and microcephaly, dysmorphism, and seizures. We report on a new case with partial trisomy 7q with facial dysmorphism and psychomotor delay, whose high resolution G-band karyotype showed an abnormal chromosome 20. Fluorescence in situ hybridization (FISH) analysis showed that in the short arm of the chromosome 20 (20p) there was extra material from chromosome 7 origin. Thus the infant has partial trisomy 7q and a subtelomeric monosomy 20p. Paternal chromosomes were normal. The karyotype was 46,XY,add(20)(p13).ish der(20)t(7;20)(q33;p13)(tel20p-)(WCP20-)(tel 7q+) "de novo".es_ES
dc.publisherInstituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)es_ES
dc.titleTrisomía parcial 7q y monosomía subtelomérica 20p. Presentación clínica de un caso y revisiónes_ES
dc.title.alternativePartial trisomy 7q and subtelomeric monosomy 20p. Clinical presentation of a case and reviewes_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.identifier.journalBoletín del ECEMC: Revista de Dismorfología y Epidemiologíaes_ES
dc.rights.accessRightsopen accesses_ES

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Atribución-NoComercial-CompartirIgual 4.0 Internacional
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