Sex chromosome abnormality

The XXY chromosome arrangement affects primarily sexual development. In addition, some males are born 46XX due to the translocation of a tiny section of the sex determining region of the Y chromosome.

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Robertsonian translocations involving the same chromosome have a higher incidence of uniparental disomy. About half live to be 50 years of age.

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Translocations can be Robertsonian centric fusion reciprocal or merely the loss of material from one chromosome attached to a different chromosome.

Inversions which do not have a breakpoint within a gene do not cause a problem in the carrier but in meiosis, one of the homologs must form a loop to pair up with the other. Humans have 23 pairs of chromosomes, one half of each pair inherited from each parent. Nondisjunction happens when a pair of sex chromosomes fails to separate during egg or sperm formation.

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Chromosomal Abnormalities

The most common symptoms of Williams syndrome are intellectual disability, heart defects, and unusual facial features small upturned nose, wide mouth, full lips, small chin, widely spaced teeth. The risk of genetically grossly unbalanced gametes being produced in a person with a paracentric inversion is very high. In normal XX females, the "inactive X" is reactivated in oogonia when meiosis begins in fetal life. It was found that when cells from two different people when grown together in culture took up the radioactive thymidine because they were able to correct the UV damage.
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  1. If the fetus is diploid and has UPD and there on genes on the chromosome that are "imprinted" differently in the male and female parent, the fetus may have a disorder such as Prader Willi or Angelman syndrome.