A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. American journal of medical genetics. [Am J Med Genet] Journal article

A patient with a proximal deletion of the long arm of chromosome 4 is presented. This patient and 6 others previously described appear to have similar findings of moderate to severe developmental delay, small size, small hands and feet, and similar facial appearance. These patients appear to be quite different from those with more distal 4q deletions.

American journal of medical genetics. [Am J Med Genet]

Abnormalities, Multiple
Chromosome Deletion
Chromosomes, Human, Pair 4
Facial Bones
Foot Deformities, Congenital
Hand Deformities, Congenital
Humans
Infant
Karyotyping
Male
Mental Retardation
Syndrome