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Genetics Residency
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Department
of
Genetics
Yale University
School of Medicine
333 Cedar Street
New Haven, CT
06510 USA
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Clinical genetics
Diagnosis of chromosomal abnormalities, congenital malformations, mental retardation, and developmental delay, dysmorphic syndromes, connective tissue disorders, skeletal dysplasias, inherited neurologic disorders. Cytogenetic and molecular genetic testing and interpretation of results.
Family history of cancer or cancer predisposition syndromes, risk estimates for family members, benefits and implications of molecular testing, interpretation of laboratory data, psychosocial counseling.
Cardiac genetics
Inherited cardiomyopathies, congenital heart disease associated with syndromes, Marfan syndrome, molecular testing and risk assessment for family members. Collaborative clinical assessment with pediatric cardiology; arrangement of assessment with adult cardiology.
Huntington disease
Counseling and neurologic assessment of family members at risk for or affected with Huntington disease, presymptomatic testing and counseling, interpretation of laboratory testing, arrangement for follow-up. Huntington Disease Society of America approved presymptomatic testing center.
Inborn Errors of Metabolism/Biochemical Genetics
Diagnosis, management and clinical care for patients with inborn errors of amino acid, organic acid, fatty acid metabolism and mitochondrial disorders. Newborn screening follow-up and assessment with rapid laboratory assessment and collaborative management with primary care physicians. Lysosomal storage disorders diagnosis and management. Molecular genetic testing with assessment of family members at risk.
Neurofibromatosis
Diagnosis and multi-system clinical assessment. Molecular genetic testing. Coordinated ongoing care and anticipatory guidance with collaboration of multiple specialists in neurology, surgery, dermatology, renovascular disease, orthopedics, ophthalomology and oncology for both adults and children.
Prenatal Genetics
Full array of prenatal genetic testing services. Chorionic villus sampling, amniocentesis, maternal serum screening, fetal tissue biopsy, detailed ultrasound examination, fetal karyotyping, biochemical testing, FISH analysis, molecular genetic analysis, and fetal blood testing.
Outreach genetic services
Outreach genetic consultation clinics in Connecticut: Danbury Hospital (11 per year), Bridgeport Hospital, (10 per year) and Greenwich Hospital, (10 per year). Prenatal genetics clinics at Lawrence and Memorial Hospital, New London and Waterbury Hospital.
Last modified:
Wednesday, 11-Jan-2006 11:04:10 EST
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