Balanced reciprocal translocation mosaicism associated with an abnormal phenotype.
Am J Med Genet
; 45(6): 721-4, 1993 Mar 15.
Article
en En
| MEDLINE
| ID: mdl-8456851
ABSTRACT
Balanced reciprocal translocation mosaicism is rarely reported in humans. Only two previous cases have been associated with an abnormal phenotype. We report on a third case of apparently balanced reciprocal translocation mosaicism associated with an abnormal phenotype, largely different from those reported previously. Since low levels of mosaicism may not be detected in routine cytogenetic analyses, balanced reciprocal translocation mosaicism may be associated with an abnormal phenotype more often than has been recognized to date.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Anomalías Múltiples
/
Mosaicismo
Tipo de estudio:
Risk_factors_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Am J Med Genet
Año:
1993
Tipo del documento:
Article