Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.
Eur J Med Genet
; 51(6): 588-97, 2008.
Article
em En
| MEDLINE
| ID: mdl-18674646
ABSTRACT
We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,-21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal origin, with partial monosomy of chromosomes 21 and X. An extreme, skewed X-inactivation pattern of the der(X) chromosome was demonstrated. Skewed inactivation probably accounted for a mild phenotype with respect to Xq25-->qter deletion while propagation of inactivation to the adjacent 21q region may account for mild clinical features associated to distal 21q monosomy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Cromossomos Humanos Par 21
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Cromossomos Humanos X
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Monossomia
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Med Genet
Ano de publicação:
2008
Tipo de documento:
Article