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

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 kary...

Descripción completa

Detalles Bibliográficos
Autores principales: Gorla, Nora, Slavutsky, Irma, Lisanti, José, Pedrazzini, Estela Maris, Vanella, Leonardo, Larripa, Irene
Formato: Articulo
Lenguaje:Inglés
Publicado: 1998
Materias:
Ciencias Médicas
Chromosome
Cytogenetic
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/128728
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-128728
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Médicas
Chromosome
Cytogenetic
spellingShingle Ciencias Médicas
Chromosome
Cytogenetic
Gorla, Nora
Slavutsky, Irma
Lisanti, José
Pedrazzini, Estela Maris
Vanella, Leonardo
Larripa, Irene
Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
topic_facet Ciencias Médicas
Chromosome
Cytogenetic
description 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.
format Articulo
Articulo
author Gorla, Nora
Slavutsky, Irma
Lisanti, José
Pedrazzini, Estela Maris
Vanella, Leonardo
Larripa, Irene
author_facet Gorla, Nora
Slavutsky, Irma
Lisanti, José
Pedrazzini, Estela Maris
Vanella, Leonardo
Larripa, Irene
author_sort Gorla, Nora
title Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_short Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_full Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_fullStr Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_full_unstemmed Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_sort cytogenetic characterization of an extra structurally abnormal chromosome associated with severe mental retardation: inv dup (15) (q13)
publishDate 1998
url http://sedici.unlp.edu.ar/handle/10915/128728
work_keys_str_mv AT gorlanora cytogeneticcharacterizationofanextrastructurallyabnormalchromosomeassociatedwithseverementalretardationinvdup15q13
AT slavutskyirma cytogeneticcharacterizationofanextrastructurallyabnormalchromosomeassociatedwithseverementalretardationinvdup15q13
AT lisantijose cytogeneticcharacterizationofanextrastructurallyabnormalchromosomeassociatedwithseverementalretardationinvdup15q13
AT pedrazziniestelamaris cytogeneticcharacterizationofanextrastructurallyabnormalchromosomeassociatedwithseverementalretardationinvdup15q13
AT vanellaleonardo cytogeneticcharacterizationofanextrastructurallyabnormalchromosomeassociatedwithseverementalretardationinvdup15q13
AT larripairene cytogeneticcharacterizationofanextrastructurallyabnormalchromosomeassociatedwithseverementalretardationinvdup15q13
bdutipo_str Repositorios
_version_ 1764820452789714944

Ejemplares similares