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Medical Genetics

Types of 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.

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

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