Silver-like syndrome and a small deletion on chromosome 13

Acta Paediatr. 1993 Nov;82(11):993-6. doi: 10.1111/j.1651-2227.1993.tb12618.x.

Abstract

A female child is described with features of Silver's syndrome, including pre- and postnatal growth delay, triangular face, hypertelorism, clinodactyly and developmental delay. In all lymphocytes analyzed, a small deletion was found in chromosome 13. The karyotype was 46,XX,del(13)(q22-32).

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Pair 13*
  • Face / abnormalities*
  • Female
  • Growth Disorders / genetics*
  • Growth Disorders / metabolism
  • Growth Hormone / metabolism
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Syndrome

Substances

  • Growth Hormone