TRIPLE X SYNDROME Matt Padd Genetics.

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Presentation transcript:

TRIPLE X SYNDROME 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.

History The 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.

Inheritance Triple 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 mutation Triple X is a chromosomal mutation.

Effects Learning 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

Diagnosis Triple 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.

Treatments Triple 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 mosaicism Three 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.

"Triple-X females. " Turner Center, 1 Jan. 2008. Web. 10 Nov. 2009 "Triple X syndrome." Triple X syndrome. Genetics Home Reference, Jan. 2009. Web. 10 Nov. 2009. <http://ghr.nlm.nih.gov/condition=triplexsyndrome>. "Triple X syndrome." Triple X syndrome. Mayo Clinic, 15 Aug. 2008. Web. 10 Nov. 2009. <http://www.mayoclinic.com/health/triple-x-syndrome/DS01090>. "Triple X syndrome." Triple X syndrome. Genetics Home Reference, 2008. Web. 10 Nov. 2009. <http://www.goldbamboo.com/topic-t6931-a1-6Triple_X_syndrome.html>.