Duplication of distal 17q from a maternal translocation: an additional case with some unique features.
J Med Genet
; 26(9): 577-9, 1989 Sep.
Article
en En
| MEDLINE
| ID: mdl-2810342
ABSTRACT
A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplication shows several unique features in our case.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Anomalías Múltiples
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Cromosomas Humanos Par 12
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Cromosomas Humanos Par 17
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Familia de Multigenes
Límite:
Female
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Humans
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Newborn
Idioma:
En
Revista:
J Med Genet
Año:
1989
Tipo del documento:
Article