Interstitial deletion of long arm of chromosome no. 5 with growth hormone deficiency--an emerging syndrome?

Clin Genet. 1997 Jan;51(1):48-51. doi: 10.1111/j.1399-0004.1997.tb02414.x.

Abstract

5p- is a well-defined syndrome, but phenotypic correlations of 5q are poorly described in the literature. We present a case of a female child with interstitial deletion in the 5q13.1q15 region. Comparison of the clinical features of this patient with others reported in the literature suggests an emerging clinical syndrome defined by short stature, failure to thrive, mental retardation, slanting palpebral fissures, malformed ears, short neck and depressed nasal bridge. Based on our endocrine testing, we hypothesize that the short stature could be, in part, due to growth hormone deficiency. The recent assignment of growth hormone receptor gene to the short arm of chromosome 5 and the presence of several genes for growth factors and growth factor receptors on 5q raise interesting possibilities for the explanation of short stature in such cases.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Body Height / genetics
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5*
  • Cleft Palate / genetics
  • Ear / abnormalities
  • Failure to Thrive / complications
  • Failure to Thrive / genetics
  • Female
  • Foot Deformities, Congenital / genetics
  • Growth Disorders / complications
  • Growth Disorders / genetics*
  • Growth Hormone / deficiency*
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Nose / abnormalities
  • Pregnancy
  • Syndactyly
  • Syndrome

Substances

  • Growth Hormone