Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the straight theta1-globin gene on 16p13.3 is compensated by its duplicate straight theta2 on chromosome 10

Am J Med Genet. 2001 Jul 1;101(3):286-7. doi: 10.1002/ajmg.1344.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Gene Duplication
  • Gene Expression Regulation
  • Globins / genetics
  • Homozygote
  • Humans
  • Hypospadias / complications
  • Hypospadias / genetics*
  • Male
  • Multigene Family / genetics
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / genetics*

Substances

  • Globins