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  • Disorders

    Chromosomes are structures within cells that contain a person's genes. Abnormalities in chromosomes are always genetic abnormalities. Some genetic abnormalities affect the genes, but do not alter the structure of the chromosomes. Thus, doctors often ...

  • Syndromes

    Cri du Chat syndrome Down syndrome Fragile X syndrome Klinefelter syndrome Long QT syndrome Moebius Sequence Noonan syndrome Prader-Willi syndrome Turner syndrome X syndrome XYY syndrome

  • Noonan syndrome

    Noonan syndrome is a genetic defect that causes a number of physical abnormalities, usually including short stature, heart defects, and an abnormal appearance. Noonan syndrome can be inherited or can develop unpredictably in children whose parents ...

  • Turner syndrome

    In Turner syndrome (gonadal dysgenesis), girls are born with one of the two X chromosomes partially or completely missing. Many newborns with Turner syndrome have swelling (lymphedema) on the backs of their hands and tops of their feet. Swelling or ...

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