AXYS has provided this collection of downloadable information for genetic counselors and other professionals who need current information about X and Y chromosome aneuploidy based on the most recent research. We recommend that you provide your clients with copies of the relevant brochure and FAQs. Please also provide them with the toll free number, 888-999-9428 to be linked with a support parent or peer. The AXYS website also offers invaluable information for obtaining support.
All materials in this collection are downloadable and provided with appropriate author permissions for use in clinical education and support.
Materials from the 2014 NSGC Conference
AXYS and the NSGC Prenatal SIG sponsored a presentation on these conditions at the 2014 NSGC conference.
Sex Chromosome Aneuploidies: A Multidisciplinary Perspective on Counseling and Current Treatment Recommendations (Session #210) by Nicole Tartaglia, MD, Children’s Hospital Colorado, University of Colorado School of Medicine; Pravin Rao, MD, The Johns Hopkins University School of Medicine; Susan Howell, MS, CGC, MBA, The eXtraordinarY Kids Clinic and Fragile X Clinic, Children’s Hospital Colorado.
- Describe the features associated with Sex Chromosome Aneuploidies (SCAs) from developmental, endocrinological, fertility and psychological perspectives.
- Summarize medical management recommendations across the lifespan.
- Discuss genetic counseling issues and identify strategies and resources to provide effective prenatal and postnatal genetic counseling.
(Educational Breakout Sessions, Item 210)
Other content regarding X and Y chromosome variations
Book Chapter from the Handbook of Pediatric Neuropsychology
Peer Reviewed Articles:
Spanish translation of the guidebook: We are sharing this draft with the proviso that it is missing some figures and that it requires additional formatting adjustments. Click here to access the draft.