Human Genetics

, Volume 85, Issue 2, pp 247–250 | Cite as

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature

  • Christine Petit
  • Judith Melki
  • Jacqueline Levilliers
  • Françoise Serville
  • Jean Weissenbach
  • Pierre Maroteaux
Short Communications
Received:
Revised:

Summary

In a four-generation family, chondrodysplasia punctata was found in a boy and one of his maternal uncles. These two patients also have short stature, as do all female members of the family. DNA molecular analysis of the pseudoautosomal and Xp22.3-specific loci revealed the presence of an interstitial deletion that cosegregates with the phenotypic abnormalities. The proximal breakpoint of this deletion was located distal to the DXS31 locus and the distal breakpoint in the pseudoautosomal region between DXYS59 and DXYS17. This maps the recessive X-linked form of chondrodysplasia punctata between the proximal boundary of the pseudoautosomal region and DXS31, and an Xp gene controlling growth between DXYS59 and DXS31.

Keywords

Internal Medicine Metabolic Disease Molecular Analysis Short Stature Phenotypic Abnormality 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Christine Petit
    • 1
  • Judith Melki
    • 2
  • Jacqueline Levilliers
    • 1
  • Françoise Serville
    • 3
  • Jean Weissenbach
    • 1
  • Pierre Maroteaux
    • 2
  1. 1.Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut PasteurParis CedexFrance
  2. 2.Unité de Recherche de Génétique Médicale, INSERM U-12 et CNRS UA-584, Hôpital Necker-Enfants MaladesParis CedexFrance
  3. 3.Groupe Hospitalier Pellegrin, Place Amélie-Raba-LéonBordeaux CedexFrance

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