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TRIPLE X SYNDROME. Matt Padd Genetics. How does it occur?. - PowerPoint PPT Presentation
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Matt Padd
Genetics
How does it occur?Triple x occurs when there is a third X
chromosome present with two other sex chromosomes in a female. Therefore, three X’s are present. Normal set’s of chromosomes have only two sex chromosomes, however there is an extra X making the cell aneuploid. Nothing definitely is known about the causes of the chromosomes irregularity, which leads to non-disjunction as the primary cause of the third X.
HistoryThe first published report of a woman with a
47,XXX karyotype was by Patricia A. Jacobs, in Edinburgh, Scotland in 1959. She was a 35-year-old, 5 ft. 9 in., 128 lb. woman who had premature ovarian failure at age 19; her mother was age 41 and her father was 40 at the time of her conception.
Occurs more often when older men and women conceive vs. younger couples.
InheritanceTriple X syndrome can not be inherited. It is
an error in cell division during early embryonic development. It has nothing to do with your past. Triple X occurs in 1 out of every 1000 females at birth. Five to ten girls are born in the U.S. every day with Triple X.
Type of mutationTriple X is a
chromosomal mutation.
EffectsLearning disabilities.
1. Delayed motor and linguistic development as well as a delayed emotional maturing.
2. Poor socialization skills.3. Increased stress
Taller then average development.History of early back problems.Small head
DiagnosisTriple X is diagnosed prenatally through a
CVS(chorionic villus sampling) or Amniocentesis. It can also be diagnosed through a blood text after a baby’s birth. All these test’s work by looking at the karyotype and making the conclusion upon that viewing.
TreatmentsTriple X is an irreversible disorder with no
cure. However Triple X is possible to treat. Treatments depends on the symptoms of the carrier. Counseling such as psychological counseling is really the only treatment to mild the effects of triple X syndrome.
46,XX/47,XXX mosaicismThree sex chromosomes are only present in
some cells vs. triple X where three sex cells are present in all cells. Females with Mosaicism usually have fewer effects as they have less cells with three X chromosomes.
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