Abstract
Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy encompassing the deleted region found in the two siblings. The pattern of X chromosome inactivation was almost completely skewed in the mother. These data suggested that the mother was a carrier of the 11q23.3-qter deletion but that this had been rescued by disomy formation during early embryogenesis except for her germinal cells.
Original language | English |
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Pages (from-to) | 224-228 |
Number of pages | 5 |
Journal | European Journal of Medical Genetics |
Volume | 62 |
Issue number | 3 |
DOIs | |
Publication status | Published - 03-2019 |
All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)