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. <http://www.aaa.dk/TURNER/ENGELSK/TRIPLEX.HTM>. • "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>.