Malformations in a child with dup (7pter-p15.1) and del (7q36-qter) as a result of familial pericentric inversion.
Clin Genet
; 39(6): 442-50, 1991 Jun.
Article
en En
| MEDLINE
| ID: mdl-1863992
We describe a child with multiple anomalies and severe retardation with dup 7pter-p15.1 and del 7q36-qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 7
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Familia de Multigenes
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Aberraciones Cromosómicas
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Deleción Cromosómica
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Inversión Cromosómica
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Discapacidad Intelectual
Límite:
Child
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Female
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Humans
Idioma:
En
Revista:
Clin Genet
Año:
1991
Tipo del documento:
Article
Pais de publicación:
Dinamarca