A century after Down syndrome was first described, scientists discovered that the root cause of this disorder is a condition called trisomy 21. What strides in research have been made since then?

Trisomy 18 — also known as Edwards syndrome — is a chromosomal condition that is fatal in all but very rare cases, Dr. Silvana Ribaudo, an ob-gyn at NewYork-Presbyterian/Columbia University ...

Antenatal diagnosis of Trisomy 13 is often made by karyotyping. This is typically performed after an assessment of risk for a chromosomal disorder is made by the maternal healthcare provider.

Each human has 46 chromosomes, 22 pairs of autosomes and 1 pair of sex ... The recurrence risk with trisomy is 1% to 2% or the maternal age risk, whichever is greater. [2] There is a recurrence ...

The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, in collaboration with Mayo Clinic, is proud to announce that Dr. Denise Al Alam and her co-Principal Investigator ...

Younger and older fathers could be more likely to have a baby with Down syndrome, according to an ... Paternal Age and the Risk of Trisomy 21, JAMA Pediatrics (2024). DOI: 10.1001/jamapediatrics.

Rett syndrome (RTT) is a rare, severe, and progressive disorder that mostly affects girls of all races. It can impact your child’s ability to speak, walk, eat, or breathe easily. It was named ...

Overcoming imposter syndrome involves changing a person's mindset about their own abilities. Imposters feel like they don’t belong, so acknowledging their expertise and accomplishments is key ...

Edwards syndrome—Also known as trisomy 18, Edwards syndrome is associated with a third chromosome 18, which causes multiple physical abnormalities and severe mental retardation. Few infants ...

Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...