Deletion of 9q22: a new observation suggesting a specific phenotype.

Article

Deletion of 9q22: a new observation suggesting a specific phenotype.

Annales de genetique - 1 Jan 1993

Pfeiffer R A, Lachmann E, Schreyer W, Volleth M

Abstract excerpt

The observation of a mentally retarded 15 months old male infant with a deletion of 9q22q2207 is compared with similar cases published between 1973 and 1991. Facial dysmorphism and abnormalities of the larynx, brain and heart suggest a particular phenotype. The critical region may be at 9q22.

Topics

Abnormalities, Multiple
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 9
Facial Asymmetry
Family
Humans
Infant
Intellectual Disability
Karyotyping
Male
Phenotype

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