Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)

• Autores: Gorla, Nora; Slavutsky, Irma; Lisanti, José; Pedrazzini, Estela Maris; Vanella, Leonardo; Larripa, Irene
• Año de publicación: 1998
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: Ciencias Médicas; Chromosome; Cytogenetic
• Institución: Universidad Nacional de La Plata

We have studied an extra structually abnormal chromosome (ESAC) in a 13 years old boy with profound mental, psychomotor and speech retardation, behavioral problems, seizures and abnormal electroencephalogram. The examination of the bisatellited ESAC with chromosome banding demonstrated that the karyotype was: 47, XY, +inv dup (15) (pter-->q13::q13-->pter). The cytogenetic characterization of the inv dup (15) is reported with special emphasis on the usefulness of DA/DAPI staining when G-banding is sequentially performed to discard possible heteromorphisms in DA/DAPI positive chromosomes, and the importance of Ag-NOR heteromorphisms to ascertain the maternal origin of the inv dup (15). A U-type exchange between two non-sister chromatids is proposed as its mechanism of formation. The clinical features of the case were consistent with those previously reported in similar cases.
Facultad de Ciencias Exactas