First Case of 1p36 Deletion Found in Tunisian Baby
⚠️ Infant dosing/safety: medication and diet decisions for infants require individualized medical guidance.
Source: Birth defects research
Summary
Researchers studied a rare genetic condition called 1p36 deletion syndrome in a newborn girl from Tunisia. The team used a method called whole-exome sequencing (WES) to look for genetic changes that could explain the baby's serious health issues, which included growth problems, seizures, facial abnormalities, heart defects, and a brain condition. They confirmed their findings with another technique called fluorescence in situ hybridization (FISH).
The study found that the baby had a deletion in a specific part of her DNA known as the 1p36 region. This deletion affects many important genes and was classified as harmful. The use of WES allowed the researchers to identify this genetic issue, which is significant because it can help explain the baby's health problems and guide future care.
This research highlights the importance of using advanced genetic testing methods like WES, especially in places where other testing options may not be available. While this case is a valuable example of how WES can help diagnose complex conditions, it is important to note that this is just one case, and more studies are needed to understand how common this deletion is and how it affects other patients.
Free: Seizure First Aid Quick Guide (PDF)
Plus one plain-language weekly digest of new epilepsy research.
Unsubscribe anytime. No medical advice.
