Velocardiofacial syndrome with a rare t(2;22).
Clin Dysmorphol
; 16(3): 181-183, 2007 Jul.
Article
em En
| MEDLINE
| ID: mdl-17551333
ABSTRACT
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in some specific regions in these chromosomes. Patients with DiGeorge and Velocardiofacial syndromes have a deletion on 22q11 leading to haploinsufficiency for one or more gene(s). We report a patient with velocardiofacial syndrome in which cytogenetic and fluorescence in situ hybridization analysis showed a rare t(2;22) and deletion in the 22q11 region.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
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Cromossomos Humanos Par 2
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Cromossomos Humanos Par 22
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Síndrome de DiGeorge
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article