1p36 deletion syndrome is one of the most common subtelomeric microdeletion disorders, occurring in approximately 1 in 5,000 to 10,000 live births. This chromosomal abnormality results in a broad ...
What to Expect on MSN
Positive Microdeletion Screen? What It Means and Your Next Steps
Microarray testing can only be performed on an amniocentesis or CVS. These tests are more advanced than NIPT and are capable of looking at chromosomes to find out if any of them are missing a small ...
A study in youth who are missing part of a chromosome is further implicating a suspect gene in schizophrenia. Youth with this genetic chromosomal deletion syndrome already had a nearly 30-fold ...
22q11.2 Deletion Syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder, arising chiefly from de novo non-homologous meiotic recombination events. This condition presents with a ...
Could diagnosing rare genetic disorders one day be as simple as snapping a picture with a smartphone? That’s what a new study suggests. Researchers with the National Institutes of Health’s National ...
Zynerba Pharmaceuticals, Inc. ZYNE presented positive long-term 38-week data from the phase 2 INSPIRE trial with Zygel in children and adolescents with 22q11.2 deletion syndrome. The data were ...
The efficacy and safety of Zygel is being evaluated in the INSPIRE study. The Food and Drug Administration (FDA) has granted Orphan Drug designation to Zygel™ (cannabidiol gel; Zynerba Pharmaceuticals ...
Harmony Biosciences has paused a mid-stage trial of ZYN002 in 22q11.2 deletion syndrome after the THC-free cannabinoid drug ...
Researchers at Emory University recently received a $3.1 million grant from the NIMH to study associations between 3q29 deletion syndrome and risk for schizophrenia and other neuropsychiatric ...
Harmony also touts late-stage asset EPX-100 (clemizole hydrochloride), which the biotech is running through a pair of phase 3 trials in Dravet syndrome and Lennox-Gastaut Syndrome— both rare forms of ...
Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...
3q29 deletion syndrome is a strong risk factor for both schizophrenia and autism spectrum disorder. People with the rare condition have a distinct neuropsychiatric profile, researchers found. A survey ...
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