A 34-year-old woman with a twin pregnancy underwent genetic testing because it was considered a high-risk pregnancy. The first-trimester NIPT reported a low risk for the common trisomies (trisomy 21, […]
[Case study 10]: A Rare Case With Two Chromosome 12p Arms Read More »
A 7-year-old female patient was diagnosed with Turner syndrome. Along with the classical clinical features of Turner syndrome (TS), she also exhibited several additional symptoms that suggested something unusual was
[Case Study #9]: A Rare Turner Syndrome Case Study with XIST Dysfunction and sSMC Read More »
A healthy 30-year-old man was referred for genetic testing. Not because he was sick. Not because he had infertility. But because his newborn daughter had multiple congenital abnormalities. As part
[Case Study #8]: A Healthy Man With An Extra Chromosome Read More »
Imagine this… A pregnant woman undergoes her routine first-trimester ultrasound. Everything else looks normal, but the scan reveals several subtle developmental abnormalities. The obstetrician prescribed chorionic villus sampling (CVS) to
[Case Study #7]: The Placenta Was Normal, but the Fetus Had Turner Syndrome Read More »
Imagine a pregnant woman undergoing NIPT. The results show a rare numerical abnormality. Let’s say trisomy 16. She immediately visits her genetic counselor and shows the results. Under ideal conditions,
[Case Study #6]: A Rare Case of Confined Placental Mosaicism Read More »
A person suffers from infertility and visits a fertility clinic for an assessment. Everything looked perfectly normal until the doctor requested a karyotype analysis. Shockingly, the results revealed something the
[Case study #5]: Two X Chromosomes, Still a Male? A Rare Infertility Case Explained Read More »
