Publications by authors named "Fabienne Raskin-Champion"
Article Synopsis
- Chromoanagenesis is a cellular process causing complex chromosomal rearrangements during a significant event, potentially leading to genetic material loss or gain and various traits, typically occurring sporadically but can also be inherited.
- In a study involving six families, researchers investigated how asymptomatic parents passed on these rearrangements to their children, using karyotyping, fluorescent in situ hybridization, chromosomal microarray, and whole genome sequencing to analyze the chromosomal changes.
- The findings suggest that chromoanagenesis can occur without affecting the parent's health or fertility, and prenatal testing using chromosomal microarray is recommended to identify any genetic imbalances in offspring from these families.
We report on a prenatally diagnosed unusual case of inverted terminal duplication of the short arm of chromosome 2, leading to interstitial telomeric sequences (ITSs) and partial trisomy 2p. To our knowledge, there are only 4 further cases of pure partial trisomy 2p reported prenatally. Here, the mother was referred at 22 weeks of gestation for isolated fetal congenital heart malformation at ultrasound.
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