Terminal deletion of chromosome 6q

Pediatr Neonatol. 2008 Jun;49(3):88-93. doi: 10.1016/S1875-9572(08)60019-4.

Abstract

Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature. Features of previously described patients are also summarized.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Female
  • Growth Disorders / genetics
  • Human Growth Hormone / therapeutic use
  • Humans
  • Intellectual Disability / genetics
  • Microcephaly / genetics

Substances

  • Human Growth Hormone