Miscarriage, Infertility and Congenital Anomalies in PCS
Congenital anomalies, infertility and a higher chance of miscarriage are the effects described, and karyotyping or genomic sequencing can identify the anomaly.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Why PCS Trait Is Hard to Diagnose and How Testing Helps
Rarity and overlap with mosaic variegated aneuploidy make the trait hard to recognize, so DNA analysis is used to detect instability that evaluation can miss.
Premature Chromatid Separation Trait as an Incidental Find
Doctors often meet this trait while looking for something else, such as a cause of infertility, raising hereditary questions that counseling and PGD help address.
PCS Trait: Chromatid Cohesion Genes and Diagnosis
Mutations in the genes that keep chromatids joined can be pinpointed by DNA analysis, which confirms the diagnosis and informs reproductive choices.
Carrier Testing for PCS Trait in Relatives
Relatives of an affected person may be carriers themselves, so counseling extends beyond the patient, and assisted reproduction is one route where fertility suffers.
PCS Trait and MVA: Monitoring for Cancer Risk
Developmental delays, growth abnormalities and male infertility are described here, alongside cancer monitoring in a trait linked to mosaic variegated aneuploidy.
PCS Trait Without Symptoms: Testing and Reproductive Care
The trait can be silent or show only non-specific symptoms, so a genetic test is what settles it, after which assisted reproduction can be weighed with a counselor.
Probing Premature Chromatid Separation Trait: The Role of Genetic Testing
Sister chromatids that split early during cell division define PCS trait, a rare disorder linked to male infertility; testing, counseling and management are covered.