Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

doi:10.1007/BF00221946

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Article

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation.

Human genetics - 1 Aug 1992

Pettenati M J, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, Thomas I T

Abstract excerpt

We report a family in which three members presented with minimal phenotypic abnormalities, normal intelligence to mild mental retardation, and a cytogenetically terminal chromosome deletion at band 8p23.1 Whole chromosomal painting with a chromosome 8-specific DNA library confirmed this familial...

Topics

Adult
Blood Coagulation
Child
Chromosome Deletion
Chromosomes, Human, Pair 8
Female
Humans
Intellectual Disability
Male
Nucleic Acid Hybridization
Phenotype
Seizures

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