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  • Title: Interstitial deletion of (17)(p11.2p11.2) in nine patients.
    Author: Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, Reiss J, Lahr M, Allen L, Magenis E.
    Journal: Am J Med Genet; 1986 Jul; 24(3):393-414. PubMed ID: 2425619.
    Abstract:
    We describe a new and distinct syndrome involving an interstitial deletion of short arm of chromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high-resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.
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