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Health Information
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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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Professionals
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Hospital News
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Genetics
Specialty Clinical Genetics Services
The Division of Clinical Genetics provides clinical evaluation and risk assessment, genetic counseling and genetic testing for a variety of genetic conditions. We also provide ongoing care for patients with genetic conditions, coordinate multidisciplinary care for patients, and help patients access resources related to their condition. When appropriate, we identify research studies for which patients may qualify to understand their condition better or provide additional therapeutic options. For patients planning their families, we provide reproductive options for having healthy children. We have specialized programs in several areas.
