A case of ring chromosome 13 with ambiguous genitalia and primary hypothyroidism

Genet Couns. 2012;23(4):529-32.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 13 / genetics
  • Clubfoot / genetics
  • Disorders of Sex Development / genetics*
  • Facies
  • Fetal Growth Retardation / genetics
  • Humans
  • Hydrocephalus / genetics
  • Hypothyroidism / drug therapy
  • Hypothyroidism / genetics*
  • Infant, Newborn
  • Male
  • Ring Chromosomes
  • Syndrome
  • Thyroxine / therapeutic use

Substances

  • Thyroxine

Supplementary concepts

  • Chromosome 13 ring