caa a22 4500 467985987 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19900701xx s 000 0 eng 10.1007/BF00193206 doi (NATIONALLICENCE)springer-10.1007/BF00193206 An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature [Elektronische Daten] [Christine Petit, Judith Melki, Jacqueline Levilliers, Françoise Serville, Jean Weissenbach, Pierre Maroteaux] 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. Springer-Verlag, 1990 Petit Christine Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut Pasteur, 28, Rue du Dr. Roux, 15, Paris Cedex, France aut Melki Judith Unité de Recherche de Génétique Médicale, INSERM U-12 et CNRS UA-584, Hôpital Necker-Enfants Malades, 149, Rue de Sêvres, 15, Paris Cedex, France aut Levilliers Jacqueline Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut Pasteur, 28, Rue du Dr. Roux, 15, Paris Cedex, France aut Serville Françoise Groupe Hospitalier Pellegrin, Place Amélie-Raba-Léon, F-33076, Bordeaux Cedex, France aut Weissenbach Jean Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut Pasteur, 28, Rue du Dr. Roux, 15, Paris Cedex, France aut Maroteaux Pierre Unité de Recherche de Génétique Médicale, INSERM U-12 et CNRS UA-584, Hôpital Necker-Enfants Malades, 149, Rue de Sêvres, 15, Paris Cedex, France aut Human Genetics Springer-Verlag 85/2(1990-07-01), 247-250 0340-6717 85:2<247 1990 85 439 https://doi.org/10.1007/BF00193206 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193206 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Petit Christine Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut Pasteur, 28, Rue du Dr. Roux, 15, Paris Cedex, France aut NATIONALLICENCE 700 1- Melki Judith Unité de Recherche de Génétique Médicale, INSERM U-12 et CNRS UA-584, Hôpital Necker-Enfants Malades, 149, Rue de Sêvres, 15, Paris Cedex, France aut NATIONALLICENCE 700 1- Levilliers Jacqueline Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut Pasteur, 28, Rue du Dr. Roux, 15, Paris Cedex, France aut NATIONALLICENCE 700 1- Serville Françoise Groupe Hospitalier Pellegrin, Place Amélie-Raba-Léon, F-33076, Bordeaux Cedex, France aut NATIONALLICENCE 700 1- Weissenbach Jean Unité de Recombinaison et Expression Génétique, INSERM U-163, CNRS UA-271, Institut Pasteur, 28, Rue du Dr. Roux, 15, Paris Cedex, France aut NATIONALLICENCE 700 1- Maroteaux Pierre Unité de Recherche de Génétique Médicale, INSERM U-12 et CNRS UA-584, Hôpital Necker-Enfants Malades, 149, Rue de Sêvres, 15, Paris Cedex, France aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/2(1990-07-01), 247-250 0340-6717 85:2<247 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer