Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

Am J Med Genet. 1995 Jan 2;55(1):30-2. doi: 10.1002/ajmg.1320550110.


We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient's phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Bone and Bones / abnormalities
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17*
  • Face / abnormalities
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Pharynx / abnormalities