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

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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Genetic and Congenital Conditions

Fetal Alcohol Spectrum Disorder (FASD)

A baby born to a mother who drinks alcohol during pregnancy can have many problems. This is called fetal alcohol spectrum disorder (FASD).

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Genetic and Congenital Conditions

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

Detailed information on structural abnormalities, including chromosome deletions and duplications.

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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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Types of Chromosome Abnormalities

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Related Articles

Medical Genetics: DNA Studies for Single Gene Defects

Fetal Alcohol Spectrum Disorder (FASD)

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

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

Types of Chromosome Abnormalities

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Related Articles

Medical Genetics: DNA Studies for Single Gene Defects

Fetal Alcohol Spectrum Disorder (FASD)

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

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