enow.com Web Search

Search results

  1. Results from the WOW.Com Content Network
  2. Turner syndrome - Wikipedia

    en.wikipedia.org/wiki/Turner_syndrome

    Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.

  3. Hypohidrotic ectodermal dysplasia - Wikipedia

    en.wikipedia.org/wiki/Hypohidrotic_ectodermal...

    A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both ...

  4. Tetrasomy X - Wikipedia

    en.wikipedia.org/wiki/Tetrasomy_X

    Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...

  5. Allan–Herndon–Dudley syndrome - Wikipedia

    en.wikipedia.org/wiki/Allan–Herndon–Dudley...

    A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both ...

  6. McLeod syndrome - Wikipedia

    en.wikipedia.org/wiki/McLeod_syndrome

    Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]

  7. Becker muscular dystrophy - Wikipedia

    en.wikipedia.org/wiki/Becker_muscular_dystrophy

    The gene affected is the DMD gene, is located on the X chromosome and is inherited in an X-linked recessive pattern. [13] Since women have two X chromosomes, if one X chromosome has the non-working gene, the second X chromosome will have a working copy of the gene to compensate, because of this ability to compensate, women rarely develop symptoms.

  8. X-linked dominant inheritance - Wikipedia

    en.wikipedia.org/wiki/X-linked_dominant_inheritance

    Sons have an equal chance of receiving either of their mother's X chromosomes. In such a case, where both parents carry and thus are affected by an X-linked dominant disorder, the chance of a daughter receiving two copies of the X chromosome with the defective gene is 50%, since daughters receive one copy of the X chromosome from both parents.

  9. XXYY syndrome - Wikipedia

    en.wikipedia.org/wiki/XXYY_syndrome

    48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.