Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/14004
Título
Trisomía parcial 7q y monosomía subtelomérica 20p. Presentación clínica de un caso y revisión
Autor(es)
Rodríguez, Laura ISCIII | Martinez-Fernandez, Maria Luisa ISCIII | Mansilla, Elena | Blanco Soto, Paula | Martín Sanz, Feliciano | Martínez-Frías, María Luisa ISCIII
Fecha de publicación
2005-10
Cita
Boletín del ECEMC: Rev Dismor Epidemiol 2005; V (nº 4): 14-18
Idioma
Español
Tipo de documento
journal article
Resumen
The 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".
Descripción
Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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