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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
- Source :
-
Cytogenetic & Genome Research . 2020, Vol. 160 Issue 5, p245-254. 10p. 1 Color Photograph, 1 Diagram, 1 Chart, 3 Graphs. - Publication Year :
- 2020
-
Abstract
- Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes that depend on the size and gene content of the affected region. In a healthy carrier, epigenetic mechanisms may compensate for the same microdeletion, which may segregate through several generations without any clinical symptoms until the epigenetic modifications no longer function. We report 2 novel cases of Xq24 microdeletions inherited from mothers with extremely skewed X-chromosome inactivation (sXCI). The first case is a boy presenting with X-linked mental retardation, Nascimento type, due to a 168-kb Xq24 microdeletion involving 5 genes (CXorf56, UBE2A, NKRF, SEPT6, and MIR766) inherited from a healthy mother and grandmother with sXCI. In the second family, the presence of a 239-kb Xq24 microdeletion involving 3 additional genes (SLC25A43, SLC25A5-AS1, and SLC25A5) was detected in a woman with sXCI and a history of recurrent pregnancy loss with a maternal family history without reproductive wastages or products of conception. These cases provide evidence that women with an Xq24 microdeletion and sXCI may be at risk for having a child with intellectual disability or for experiencing a pregnancy loss due to the ontogenetic pleiotropy of a chromosomal microdeletion and its incomplete penetrance modified by sXCI. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14248581
- Volume :
- 160
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Cytogenetic & Genome Research
- Publication Type :
- Academic Journal
- Accession number :
- 144843401
- Full Text :
- https://doi.org/10.1159/000508050