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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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Lucile Packard Children's Hospital is located in Palo Alto, adjacent to Stanford University Hospital, approximately 20 miles north of San Jose, CA and 40 miles south of San Francisco.


Lucile Packard Children's Hospital
725 Welch Road
Palo Alto, California 94304
(650) 497-8000


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