Problems in ascertainment of transmitting males in Martin-Bell syndrome.

doi:10.1002/ajmg.1320410405

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Article

Problems in ascertainment of transmitting males in Martin-Bell syndrome.

American journal of medical genetics - 15 Dec 1991

Loesch D Z, Hay D A, Leversha M

Abstract excerpt

The difficulty of assigning families affected with the Martin-Bell syndrome (MBS) into the category of male transmission is emphasised and illustrated by examples of 3 MBS families. These examples demonstrate how the ability to detect transmitting males depends on the number of generations availa...

Topics

Face
Female
Fragile X Syndrome
Heterozygote
Humans
Male
Pedigree
Phenotype

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