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- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Chromosome Abnormalities
- Chromosome Abnormality vs. Single Gene Defect
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- Down Syndrome (Trisomy 21)
- Genetic Services: When, Where, How
- Glossary - Medical Genetics
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Medical Genetics
- Medical History and Genetic Testing
- Mosaic Down Syndrome
- Mosaicism
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Overview of Chromosome Abnormalities
- Overview of Single Gene Defects
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- The Human Genome Project
- Trinucleotide Repeats: Fragile-X Syndrome
- Trisomy 18 and 13
- Turner Syndrome
- Types of Chromosome Abnormalities
- Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
- Uses of Genetic Testing
- Vitamin, Gene, and Enzyme Replacement Therapy
- When to Seek Genetic Counseling
- X-linked Agammaglobulinemia
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
Research and Clinical Trials
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For Patients, Families & Visitors
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Genetics
Neurofibromatosis Clinic
Our Neurofibromatosis (NF) clinic is an Affiliate Clinics of the Children's Tumor Foundation NF Clinic Network (NFCN). As part of the CTF network, it is our goal to provide comprehensive clinical care for our patients and families undergoing evaluation or who have received a diagnosis of neurofibromatosis type 1 or 2.
Pediatric and adult patients seen in our clinic will meet with the genetic counselor, Anita Shanmugham, and geneticists Dr. Wendy Chung or Dr. Kwame Anyane-Yeboa, who have expertise in the care of individuals with neurofibromatosis.
Patients can be referred to evaluate the possible diagnosis of NF1 or NF2 or for management. At the visit we will discuss the natural history, diagnosis and genetics of NF1 and NF2. A detailed medical and family history is obtained, and a physical examination is conducted by the geneticist. When necessary, genetic testing is performed.
Based on the information obtained, we develop an individual plan for each patient, which includes coordinating further appointments with other specialty providers, such as ophthalmology, radiology, neurology, and surgery. If desired, we assist to provide reproductive planning options for patients at risk to transmit NF to a child including prenatal diagnosis and preimplantation genetic diagnosis. We also have clinical studies in which patients may wish to enroll. Our goal is to work with each patient and family to provide education, support and counseling to improve their clinical care.
