Molecular mapping of a Yq deletion in a patient with normal stature

Hum Genet. 1996 Oct;98(4):505-7. doi: 10.1007/s004390050248.


The proximal long arm of the Y chromosome probably contains a gene (GCY) involved in stature determination. Recent reports have proposed the critical region extends from interval 4B to interval 5G (or 5E). In the present study, the deletion breakpoint in a male adult patient of normal height with a 46,X,del(Yq) karyotype was defined by the use of sequence-tagged site markers. The breakpoint was found between sY78 (interval 4B) and sY79 (interval 5A). The existence of a normal stature in this patient suggests that the growth determinant is proximal to sY79, therefore probably located in interval 4B or in proximal interval 5A of the Y chromosome.

Publication types

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

MeSH terms

  • Adult
  • Body Height
  • Chromosome Deletion*
  • Chromosome Mapping
  • Deleted in Azoospermia 1 Protein
  • Humans
  • Karyotyping
  • Lymphocytes
  • Male
  • Oligospermia / genetics
  • Polymerase Chain Reaction
  • RNA-Binding Proteins / genetics
  • Semen
  • Sequence Tagged Sites
  • X Chromosome
  • Y Chromosome*


  • DAZ1 protein, human
  • Deleted in Azoospermia 1 Protein
  • RNA-Binding Proteins