Literature DB >> 1937466

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.

L Van Maldergem1, M Espeel, F Roels, C Petit, G Dacremont, R J Wanders, A Verloes, Y Gillerot.   

Abstract

A case of X-linked recessive chondrodysplasia punctata (CP) is described. The finding of a reciprocal X-Y translocation involving the region distal to Xp22.3 and the presence of fluorescent Yp11.23 regions confirms the localization of X-linked recessive CP at p22.3. No gross peroxisomal abnormalities were present in the propositus.

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Year:  1991        PMID： 1937466     DOI： 10.1007/bf00201721

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  17 in total

1.  Long-range restriction map of the terminal part of the short arm of the human X chromosome.

Authors:  C Petit; J Levilliers; J Weissenbach
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

2.  Chondrodysplasia punctata, tibia-metacarpal (MT) type.

Authors:  M Rittler; H Menger; J Spranger
Journal:  Am J Med Genet       Date:  1990-10

3.  Immunocytochemical detection of peroxisomal beta-oxidation enzymes in cryostat and paraffin sections of human post mortem liver.

Authors:  M Espeel; T Hashimoto; D De Craemer; F Roels
Journal:  Histochem J       Date:  1990-01

4.  Post-mortem visualization of peroxisomes in rat and in human liver.

Authors:  D De Craemer; M Espeel; M Langendries; R B Schutgens; T Hashimoto; F Roels
Journal:  Histochem J       Date:  1990-01

5.  Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Authors:  A Ballabio; B Bardoni; R Carrozzo; G Andria; D Bick; L Campbell; B Hamel; M A Ferguson-Smith; G Gimelli; M Fraccaro
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

6.  Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

Authors:  D Bick; C J Curry; J R McGill; D F Schorderet; R C Bux; C M Moore
Journal:  Am J Med Genet       Date:  1989-05

7.  Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

Authors:  C J Curry; R E Magenis; M Brown; J T Lanman; J Tsai; P O'Lague; P Goodfellow; T Mohandas; E A Bergner; L J Shapiro
Journal:  N Engl J Med       Date:  1984-10-18       Impact factor: 91.245

8.  Chondrodysplasia punctata-23 cases of a mild and relatively common variety.

Authors:  L J Sheffield; D M Danks; V Mayne; A L Hutchinson
Journal:  J Pediatr       Date:  1976-12       Impact factor: 4.406

9.  Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.

Authors:  H W Moser; A B Moser; K K Frayer; W Chen; J D Schulman; B P O'Neill; Y Kishimoto
Journal:  Neurology       Date:  1981-10       Impact factor: 9.910

10.  Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases.

Authors:  F Roels; A Cornelis; B T Poll-The; P Aubourg; H Ogier; J Scotto; J M Saudubray
Journal:  Am J Med Genet       Date:  1986-10
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  4 in total

1.  Immunocytochemical localization of peroxisomal proteins in human liver and kidney.

Authors:  M Espeel; G Van Limbergen
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

2.  Indication of prenatal diagnosis in pregnancies complicated by undetectable second-trimester maternal serum estriol levels.

Authors:  Anne-Frédérique Minsart; Anne Van Onderbergen; Francotte Jacques; Crener Kurt; Yves Gillerot
Journal:  J Prenat Med       Date:  2008-07

3.  A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.

Authors:  A Klink; A Meindl; H Hellebrand; G A Rappold
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

Review 4.  Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.

Authors:  F Roels; M Espeel; D De Craemer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
  4 in total

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