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  2. Turner syndrome - Wikipedia

    en.wikipedia.org/wiki/Turner_syndrome

    Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal disorder in which cells have only one X chromosome 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. Monosomy - Wikipedia

    en.wikipedia.org/wiki/Monosomy

    Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the ...

  4. List of fetal abnormalities - Wikipedia

    en.wikipedia.org/wiki/List_of_fetal_abnormalities

    Amniotic band syndrome; Anal atresia; Anencephaly; Angelman syndrome; ... Trisomy 21 (Down Syndrome) Turner syndrome (Monosomy X) Twin-to-twin transfusion syndrome;

  5. Nondisjunction - Wikipedia

    en.wikipedia.org/wiki/Nondisjunction

    Karyotype of X monosomy (Turner syndrome) This condition is characterized by the presence of only one X chromosome and no Y chromosome (see bottom right corner). Complete loss of an entire X chromosome accounts for about half the cases of Turner syndrome .

  6. 45,X/46,XY mosaicism - Wikipedia

    en.wikipedia.org/wiki/45,X/46,XY_mosaicism

    In 45,X/46,XY, most or all of the Y chromosome is lost in one of the newly created cells. All the cells then made from this cell will lack the Y chromosome. All the cells created from the cells that have not lost the Y chromosome will be XY. [11] The 46,XY cells will continue to multiply at the same time as the 45,X cells multiply.

  7. Gonadal dysgenesis - Wikipedia

    en.wikipedia.org/wiki/Gonadal_dysgenesis

    Turner syndrome, also known as 45,X or 45,X0, is a chromosomal abnormality characterised by a partial or completely missing second X chromosome, [4] [24] [25] giving a chromosomal count of 45, instead of the typical count of 46 chromosomes. [24]

  8. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1:1,000,000 X-linked severe combined immunodeficiency (X-SCID) X: X-linked sideroblastic anemia (XLSA) ALAS2 (X) 47,XXX (triple X syndrome) X C 1: ...

  9. Isochromosome - Wikipedia

    en.wikipedia.org/wiki/Isochromosome

    Turner syndrome is a condition in females in which there is partial or complete loss of one X chromosome. This causes symptoms such as growth and sexual development problems. In 15% of Turner syndrome patients, the structural abnormality is isochromosome X, which is composed of two copies of the q arm (i(Xq)).