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Chromosome Abnormalities

There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.

If you cannot find the information in which you are interested, please visit the Medical Genetics Online Resources page in this Web site for an Internet/World Wide Web address that may contain additional information on that topic.

Overview of Chromosome Abnormalities

Types of Chromosome Abnormalities

Numerical Abnormalities: Overview of Trisomies and Monosomies

Down Syndrome

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

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Topic Content

Site 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

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