Interstitial deletion of (17)(p11.2p11.2) in nine patients

Am J Med Genet. 1986 Jul;24(3):393-414. doi: 10.1002/ajmg.1320240303.


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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Aged
  • Child
  • Child Behavior Disorders / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, 16-18*
  • Developmental Disabilities / genetics
  • Facial Bones / abnormalities
  • Female
  • Growth Disorders / genetics
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Phenotype
  • Psychomotor Disorders / genetics
  • Skull / abnormalities
  • Syndrome