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 »
Male infertility is a major global health concern. Among many contributing factors, genetics is a predominant cause of idiopathic male infertility. The literature usually considers Y chromosome-linked abnormalities exclusively in
[Case study #4]: How a Ring Chromosome Caused Infertility in Two Brothers Read More »
A child (pediatric patient) suffers from autoimmune thyroid, autoimmune hepatitis type II and insulin-dependent diabetes mellitus. Also, a few developmental and neurological problems, showing varied levels and varieties of autoimmune
[Case Study #3]: A Unique Case of Ring Chromosome and Autoimmune Diseases Read More »
