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The Weill Cornell Medicine Chromosome X and Y Variations Program offers multidisciplinary care for children and adults with 47,XXY (Klinefelter syndrome), 47,XXX, 47,XYY, 45,X (Turner syndrome and mosaic forms), and other complex X and Y chromosome variations. Directed by Dr. Lilian Cohen in the Division of Medical Genetics, the program brings together specialists to provide comprehensive evaluation, genetic counseling, and coordination of care.
Diagnosis and Care
Variations involving an extra or missing X or Y chromosome are called sex chromosome aneuploidies. Health and developmental needs vary by condition and from person to person. Some individuals are diagnosed prenatally, while others are identified during childhood or adulthood when developmental, growth, or reproductive concerns prompt evaluation. We provide genetic counseling when noninvasive prenatal screening (cell-free DNA screening) suggests an X or Y chromosome variation and discuss options for diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis. Our care team supports families following a confirmed diagnosis and provide genetic counseling, genetic testing, and coordination of care at all ages.
Children and adults with X and Y chromosome variations may have subtle or varying health and developmental concerns, sometimes without obvious physical differences. Depending on individual needs, we coordinate referrals to endocrinology, cardiology, developmental-behavioral pediatrics, speech-language therapy, psychology, reproductive medicine and other services. During adolescence and young adulthood, our providers help patients transition from pediatric to adult care and tailor preventive care, treatment, and referrals as needs change.
Research and Collaborations
Our program is a member of the AXYS Clinic and Research Consortium (ACRC), a network of clinics working with the Association for X and Y Chromosome Variations (AXYS) to improve clinical care, education, and research.
We also participate in the Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR), a consortium within the Rare Diseases Clinical Research Network (RDCRN). NASCARR brings together scientists, health care providers, and patient advocacy organizations to improve the lives of individuals with sex chromosome aneuploidies through research, clinical expertise, and education.
Resources for Families
Our Multidisciplinary Team
Our program brings together specialists in:
Depending on individual needs, we coordinate additional pediatric and adult referrals, including:
Make an Appointment
Our multidisciplinary team coordinates care across medical genetics, endocrinology, and other specialties.
For new appointments or general inquiries, please call our genetics office Dr. Lilian Cohen at (646) 962-2205 or email wcmpedsgenetics@med.cornell.edu.
We offer prenatal genetic counseling and care for children, adolescents, and adults.
We offer both virtual and in-person appointments.
For referral information, please refer to our Clinical Services.
