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Single Gene DefectsDefectos en un único Gen

Single Gene Defects

There are many different single gene defects 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 Single Gene Defects

Autosomal Dominant: Marfan Syndrome

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

X-linked Recessive: Red-Green Color Blindness, Hemophilia A

X-linked Dominant: Incontinentia Pigmenti

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  The Difference Between a Chromosome Abnormality and a Single Gene Defect
  Overview of Single Gene Defects
  Studies for Single Gene Defects: DNA (Direct and Indirect)
  Testing for Birth Defects
  Types of Genetic Diseases
  Cystic Fibrosis Overview