1p microdeletion in sibs with minimal phenotypic manifestations.

Article

1p microdeletion in sibs with minimal phenotypic manifestations.

American journal of medical genetics - 15 Jan 1999

Martínez J E, Tuck-Muller C M, Gasparrini W, Li S, Wertelecki W

Abstract excerpt

We report on two sibs with a paracentric inversion of chromosome 1 [inv(1)(p22.3p34.1)] and a small deletion of the same chromosome (p34.1-->p34.3). They presented with learning disabilities and disturbed conduct but lacked the more severe manifestations usually associated with autosomal chromoso...

Topics

Adolescent
Chromosome Deletion
Chromosome Inversion
Chromosomes, Human, Pair 1
Humans
In Situ Hybridization, Fluorescence
Male
Nuclear Family
Phenotype

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