Malformation syndrome with t(2;22) in a cancer family with chromosome instability.
Cancer Genet Cytogenet
; 38(2): 223-7, 1989 Apr.
Article
em En
| MEDLINE
| ID: mdl-2720635
ABSTRACT
A de novo unbalanced t(2;22)(q37;q11.2) [corrected], resulting in the deletion of the 22pter-q11 and 2q37-qter regions, was observed in a 12-year-old girl born with a congenital malformation syndrome and later displaying signs of neurologic impairment. Some of the clinical signs observed appear to overlap those found in subjects monosomic in the 22q11 region affected by the DiGeorge syndrome. The chromosomal rearrangement observed may be related to a familial cytogenetic instability that also gives rise to sustained cancer predisposition.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 2
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Cromossomos Humanos Par 22
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Aberrações Cromossômicas
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Neoplasias
Limite:
Child
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Female
/
Humans
Idioma:
En
Ano de publicação:
1989
Tipo de documento:
Article