Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family.
Am J Med Genet
; 9(4): 291-9, 1981.
Article
en En
| MEDLINE
| ID: mdl-7294068
ABSTRACT
We report four additional cases of Wiedemann-Beckwith syndrome (WBS) A mother, her brother, and two of her children (half-sibs). Theories of the genetic transmission of the WBS are reviewed. The trait in this family appears to be an autosomal-dominant with variable expressivity. A theory of delayed mutation of an unstable premutated gene is discussed and an interpretation and observations are offered which could alter slightly the expected pattern of inheritance. Eighty-eight other family members were screened for evidence of WBS and noteworthy findings are presented.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Aberraciones Cromosómicas
/
Trastornos de los Cromosomas
/
Gigantismo
/
Hernia Umbilical
/
Macroglosia
Límite:
Adult
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Child
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Am J Med Genet
Año:
1981
Tipo del documento:
Article
Pais de publicación:
EEUU
/
ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
/
EUA
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UNITED STATES
/
UNITED STATES OF AMERICA
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US
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USA