Child with rare epileptic disorder receives long-awaited diagnosis
Researchers provided a long-awaited and rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a type of ...
Simple treatment can save lives for men with a common chromosomal disorder
More than half of all men with Klinefelter syndrome (KS) are unaware that they have the condition. Among those who do receive ...
SheKnows20d
11 Things All Kids Should Be Able To Do by Age 15
The teen years are no joke. Many parents of 15-year-old kids are constantly hearing from their teens how their friends get to do so much more than they are allowed to do and how they are being ...
Phys.org22d
Final synthetic yeast chromosome completed, paving way for biotech advances
Get Instant Summarized Text (Gist) The completion of the final synthetic chromosome in the yeast genome marks a significant advancement in synthetic biology. This achievement enables the creation ...
Frontiers1mon
Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
In total, 43 fetuses were diagnosed with recurrent 1q21.1 deletion or duplication syndrome via array comparative genomic ... The prenatal ultrasound features mainly encompassed renal anomalies (3/20, ...
Medscape17y
Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report
Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison ...
Medscape17y
Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report
Scott W. Stuart, MD, MS, Fellow, Developmental Pediatrics Medical University of South Carolina, Children's Hospital, Charleston, South Carolina Casey H. King, BA ...