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GENATLAS PHENOTYPE
last update : 23/06/2006
Symbol DELXPF
Location Xp22.33
Name chromosome Xp distal deletion in females
Other name(s) monosomy Xpter
Corresponding gene SHOX
Other symbol(s) Xp-
Main clinical features
  • short stature
  • normal gonadal function and fertility can be retained even with the loss of two-third of Xp
  • lymphedema features are usually much milder than in 45,X patients
  • Genetic determination chromosomal
    Related entries TS, DELXPM
    Function/system disorder multisystem/generalized
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   cytogenetically visible deletions of Xp, usually terminal ; variable size ; de novo or maternally inherited
      translocation   (X;Y)translocations with the distal short arm of the X replaced by the distal long arm of the Y or (X;autosome) translocations
      mosaicism   some cases are mosaic for a 45,X cell line
    Remark(s)
  • de novo deletions are more often of paternal origin
  • for the smaller deletions, the sructurally abnormal X may be active in a variable number of cells
  • Genotype/Phenotype correlations Short stature is not observed in patients with interstitial deletions not including SHOX