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Medical Genetics Home
Overview of Birth Defects
Chromosome Abnormalities
Overview of Chromosome Abnormalities
Types of Chromosome Abnormalities
Down Syndrome (Trisomy 21)
Trisomy 18 & 13
Turner Syndrome
Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
Translocation Down Syndrome
Mosaicism
Mosaic Down Syndrome
How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
Single Gene Defects
Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
X-linked Recessive: Red-Green Color Blindness, Hemophilia A
X-linked Dominant: Incontinentia Pigmenti
Multifactorial Inheritance
Teratogens
Teratogens Overview
Examples of Teratogens
Fetal Alcohol Syndrome (FAS)
Varicella
Non-Traditional Inheritance
Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
Trinucleotide Repeats: Fragile-X Syndrome
Mitochondrial Inheritance: Leber's Optic Atrophy
Evaluating a Child for Birth Defects
Testing for Birth Defects
Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
Studies for Single Gene Defects: DNA (Direct and Indirect)
Uses of Genetic Testing
Genetic Services: When, Where, How
Identification, Treatment, and Prevention of Birth Defects
Vitamin, Gene, and Enzyme Replacement Therapy
Before Your Next Pregnancy
When to Seek Genetic Counseling
Support Groups
Southern New Mexico Surgery Center 2301 Indian Wells Rd. Suite B Alamogordo, NM 88310 www.snmsc.org
Phone: 575.437.0890 Fax: 575.437.0905 Email: info@snmsc.org