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Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.
- Source :
-
Cytogenetic and genome research [Cytogenet Genome Res] 2020; Vol. 160 (2), pp. 80-84. Date of Electronic Publication: 2020 Feb 05. - Publication Year :
- 2020
-
Abstract
- Unbalanced X;autosome translocations are a rare occurrence with a wide variability in clinical presentation in which the X chromosome unbalance is usually mitigated by a favorable X inactivation pattern. In most cases, this compensation mechanism is incomplete, and the patients show a syndromic clinical presentation. We report the case of a family with 4 women, of 3 different generations, carrying an unbalanced X;7 translocation with a derivative X;7 chromosome and showing a skewed X inactivation pattern with a preferential activation of the normal X. None of the carriers show intellectual disability, and all of them have a very mild clinical presentation mainly characterized by gynecological/hormonal issues and autoimmune disorders. We underline the necessity of family testing for a correct genetic consultation, especially in the field of prenatal diagnosis. We indeed discuss the fact that X;autosome translocations may lead to self-immunization, as skewed X chromosome inactivation has already been proved to be related to autoimmune disorders.<br /> (© 2020 S. Karger AG, Basel.)
Details
- Language :
- English
- ISSN :
- 1424-859X
- Volume :
- 160
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Cytogenetic and genome research
- Publication Type :
- Academic Journal
- Accession number :
- 32018271
- Full Text :
- https://doi.org/10.1159/000506097