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Driscoll Children's Genetic Services

Site Index

Medical Genetics Home

Overview of Birth Defects

Chromosome Abnormalities

Overview of Chromosome Abnormalities

Types of Chromosome Abnormalities

Numerical Abnormalities: Overview of Trisomies and Monosomies

Down Syndrome (Trisomy 21)

Trisomy 18 & 13

Turner Syndrome

Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)

Translocations

Translocation Down Syndrome

Other Arrangements: Rings and Inversions

Mosaicism

Mosaic Down Syndrome

How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment

Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism

Single Gene Defects

Overview of Single Gene Defects

Autosomal Dominant: Myotonic Dystrophy

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease

X-linked Recessive: Red-Green Color Blindness, Hemophilia A

X-linked Dominant: Incontinentia Pigmenti

The Difference Between a Chromosome Abnormality and a Single Gene Defect

Multifactorial Inheritance

Teratogens

Examples of Teratogens

Fetal Alcohol Syndrome (FAS)

Phenytoin (Dilantin)

Varicella

Examples of Non-Teratogenic Agents: Spermicides, Acetaminophen, Prenatal Vitamins, Using a Microwave to Cook Food

Identifying Teratogens

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

Overview of Newborn Screening for Birth Defects

Medical History and Genetic Testing

Testing for Birth Defects

Chromosome Studies: Karyotype, Extended Banding, Fluorescent In Situ Hybridization (FISH)

Studies for Single Gene Defects: DNA (Direct and Indirect)

Biochemical Genetic Testing

Uses of Genetic Testing

Genetic Services: When, Where, How

Identification, Treatment, and Prevention of Birth Defects

The Human Genome Project

Vitamin, Gene, and Enzyme Replacement Therapy

Before Your Next Pregnancy

When to Seek Genetic Counseling

Glossary

Support Groups

Online Resources

Click here to view the
Online Resources page of this Web.

Topic Home Page - Topic Index

Contact information:

Raymond Lewandowski, MD
Medical Director, Geneticist

Ofelia Rivera
Office Manager

Deborah Dansby
Sonographer Supervisor

Denise Dominguez
Valley Supervisor

Andrea Ramirez
Senior Genetic Counselor

CPSST - Driscoll Genetics Services
5920 Saratoga Blvd. 540
Corpus Christi, Texas 78414
Phone: (361) 694-1600 or (361) 985-6600
Fax: (361) 985-6603
Hours 8-5 pm

CPSST - Driscoll Genetics Services -Brownsville
1096 Los Ebanos, Suite B
Brownsville, TX 78520
Phone: (956) 544-5663
Fax: (956) 544-7386

CPSST - Driscoll Genetics Services - Harlingen
2220 Haine Dr., Suite #46
Harlingen, TX 78550
Phone: (956) 428-0897
Fax: (956) 428-0899

CPSST - Driscoll Genetics Services - McAllen
1910 S. First St., Suite #500
McAllen, TX 78501
Phone: (956) 686-0503
Fax: (956) 668-0503
Hours: 8 – 5 Monday – Friday

Further Reading

Genetics Information Index

Overview of Birth Defects

Chromosome Abnormalities

Single Gene Defects

The Difference Between a Chromosome Abnormality and a Single Gene Defect

Multifactorial Inheritance

Teratogens

Non-Traditional Inheritance

Evaluating a Child for Birth Defects

Testing for Birth Defects

Uses of Genetic Testing

Genetic Services: When, Where, How

Identification, Treatment, and Prevention of Birth Defects

Glossary

Support Groups

Online Resources

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Click here to learn about Genetics Services | Contact us