Pericentric inversion of the X chromosome: presentation of a case and review of the literature

Détails

ID Serval
serval:BIB_552E090712AD
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Pericentric inversion of the X chromosome: presentation of a case and review of the literature
Périodique
Annales de Genetique
Auteur(s)
Schorderet  D. F., Friedman  C., Disteche  C. M.
ISSN
0003-3995 (Print)
Statut éditorial
Publié
Date de publication
1991
Volume
34
Numéro
2
Pages
98-103
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Review
Résumé
A large pericentric inversion of the X chromosome [inv(X)(p22.31q26.3)] was found to be transmitted in four generations through phenotypically normal males and females. In one female carrier, the inv(X) was late replicating in 70% of lymphocytes and 46% of skin fibroblasts. Steroid sulfatase (STS), an enzyme which normally escapes inactivation has been located to Xp22.32 and, in our case, has been moved to an aberrant position. We have assayed its activity in clones with the inv(X) inactive or the normal X inactive and found no significant differences. Thus, the STS locus escaped X inactivation in both the normal and the inverted X chromosomes. A review of the literature shows that almost half of the breakpoints on the short arm are found at region p22 and we propose that low-copy repetitive DNA segments along the X chromosome are responsible for non-homologous pairing and production of inversions.
Mots-clé
Amniocentesis Arylsulfatases/genetics *Chromosome Mapping *Dosage Compensation, Genetic Female Humans *Inversion, Chromosome Karyotyping Pregnancy Steryl-Sulfatase
Pubmed
Web of science
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
20/08/2019 15:09
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