Article
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.
Cytogenetic and genome research - 1 Jan 2020
Tolmacheva Ekaterina N, Kashevarova Anna A, Nazarenko Lyudmila P, Minaycheva Larisa I, Skryabin Nikolay A, Lopatkina Maria E, Nikitina Tatyana V, Sazhenova Elena A, Belyaeva Elena O, Fonova Elizaveta A, Salyukova Olga A, Tarabykin Victor S, Lebedev Igor N
Abstract excerpt
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...
Topics
- Abortion, Habitual
- Adult
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, X
- Epigenesis, Genetic
- Female
- Humans
- Infant