Friday, December 15, 2006
Prayer
Sorry I haven't blogged in soooooo long. Holidays. I just received some bad news. A "distant" neighbor friend of mine just found out her unborn baby girl has trisomy x. She is not married, but has a steady boyfriend (father of the unborn baby) and a 17 month old daughter. They are obveously reeling from the news -- just found out last night. I am unsure where their faith is. Please pray. thank you.
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People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).
Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of 46. It remains uncertain why an extra copy of the X chromosome is associated with tall stature and learning problems in some girls and women.
Some females with triple X syndrome have an extra X chromosome in only some of their cells. These cases are called 46,XX/47,XXX mosaics.
Trisomy X usually is not inherited, but occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a female child, the child will have an extra X chromosome in each of the body's cells.
In some cases, trisomy X results from nondisjunction during cell division in early embryonic development. These cases are usually 46,XX/47,XXX mosaics.
(http://ghr.nlm.nih.gov/condition=triplexsyndrome)
This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day.
A really good site that answers many different questions is:
www.aaa.dk/TURNER/ENGELSK/TRIPLEX.HTM
I would also suggest the parents visit/join: http://groups.yahoo.com/group/raregeneticdisorders
"This is a group for parents, parents-to-be, other family members, and the women themselves to share regarding the diagnosis of an extra X."
The Netherlands also have a parent group and a website of articles that have been translated into English. That site can be accessed at www.triple-x-syndroom.nl
Females with triple X syndrome are sometimes taller than average and have an increased risk of learning disabilities and delayed speech and language skills. Developmental delays and behavioral problems are also possible, but these characteristics VARY WIDELY among affected girls and women. Most females with triple X syndrome have normal sexual development and are able to conceive children. Many girls and women with Triple X have NO signs or symptoms .
Some signs MAY include:
* Increased space between the eyes
* Vertical skin folds that may cover the inner corners of the eyes (epicanthal folds)
* Tall stature (height)
* Small head
* Speech and language delays and learning disabilities
* Delayed development of certain motor skills
* Behavioral problems
* Seizures
* Delayed puberty
* Infertility
* Rarely, mental retardation
If you have any other questions feel free to contact me.
I hope this helps!
Anjuli
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