Evidence by spectral karyotyping that 8q11.2 is nonrandomly involved in lipoblastoma.
J Mol Diagn
; 2(2): 73-7, 2000 May.
Article
em En
| MEDLINE
| ID: mdl-11272891
ABSTRACT
We report two cases of lipoblastoma with chromosome 8-related aberrations, ie, a 92,XXYY,t(7;8Xp22;q11.2)x2 [8]/46,XY[16] in Case 1 and a 46,XY,-8,-13,add(16) (q22),+mar, +r [cp13]/46,XY[7] in Case 2. Using spectral karyotyping and fluorescence in situ hybridization techniques, the karyotype of Case 2 was redesignated as 46,XY, r(8), del(13)(q12), der(16)ins(16;8)(q22; q24q11.2)[cp13]/46,XY[7]. This report delineates a new chromosome rearrangement, ie, der(16)ins(16;8)(q22; q24q11.2) in lipoblastoma, and also confirms the t(7; 8)(p22;q11.2), reported only once previously, as a recurrent translocation involved in such a tumor. These findings provide valuable information for clinical molecular cytogenetic diagnosis of lipoblastoma. Furthermore, this report highlights the value of cytogenetic and molecular cytogenetic analysis in differential diagnosis of childhood adipose tissue tumors and adds to the number of lipoblastomas reported with chromosomal abnormalities at 8q11.2.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 8
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Aberrações Cromossômicas
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Neoplasias Lipomatosas
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Lipoma
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article