Types

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.

Overview 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

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Genetic and Congenital Conditions

Trinucleotide Repeats: Fragile X Syndrome

Detailed information on trinucleotide repeats, including fragile X syndrome.

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Genetic and Congenital Conditions

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

Overview of autosomal recessive inheritance, including cystic fibrosis, sickle cell anemia, and Tay Sachs disease.

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Genetic and Congenital Conditions

Single Gene Defects

Detailed information on single gene defects and patterns of inheritance

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Genetic and Congenital Conditions

Medical Genetics: DNA Studies for Single Gene Defects

To look for single gene defects, healthcare providers look at the DNA to see if it has any errors in it. Errors are known as mutations.

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Types of Chromosome Abnormalities

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Related Articles

Trinucleotide Repeats: Fragile X Syndrome

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

Single Gene Defects

Medical Genetics: DNA Studies for Single Gene Defects

Types of Chromosome Abnormalities

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Related Articles

Trinucleotide Repeats: Fragile X Syndrome

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

Single Gene Defects

Medical Genetics: DNA Studies for Single Gene Defects