Sex chromosome aneuploidies


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Other Robertsonian translocation carriers with translocations involving chromosome 21, can have normal children, Down syndrome children, and more than the usual number of miscarriages.



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Tall stature; usually fertile but significant number have urogenital problems including infertility; increased risk of chromosomal abnormalities; delays in language, neuromotor and learning skills; impaired communication and psychosocial adaptation.

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. Sex chromosome abnormalities are due to numeric abnormalities eg, aneuploidies such as monosomy X or structural defects eg, isochromosome Xq leading to Turner syndrome involving the X and Y chromosomes.

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Sex chromosome abnormalities

Other Robertsonian translocation carriers with translocations involving chromosome 21, can have normal children, Down syndrome children, and more than the usual number of miscarriages. Women with a negative screen result are not at increased risk of carrying an affected fetus. But aneuploidy upends the normal path of cell division. In general, abnormalities involving the sex chromosomes are better tolerated than autosomal abnormalities because only one X is active in the normal adult. When a structural chromosome abnormality is found in a fetus, the parents chromosomes should be karyotyped to see if they carry a balanced rearrangement or the same rearrangement or whether the abnormality in the fetus arose de novo.
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Comments
  1. Bloom syndrome which exhibits sister chromatid exchange SCE in the cell cultures of those affected and is more frequent in Ashkenazi Jews. Cell culture, microscopy, and karyotyping.

  2. To continue reading this article, you must log in with your personal, hospital, or group practice subscription.