Deletion of 45x chromosome= our baby GIRL had Turner's Syndrome
Excerpted from turnersyndrome.org
What is Turner syndrome?
Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome. The syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930's. TS occurs in approximately 1 of 2,000 female's born and in as many as 10% of all miscarriages.
How is Turner syndrome diagnosed?
Diagnosis is made through a test called a karyotype, which is usually performed on cells in the amniotic fluid before birth and on cells in the blood after birth. A trained specialist counts the chromosomes in the white blood cells and looks for abnormalities. Females normally have two X chromosomes (46,XX) and males have one X and one Y (46,XY). Turner syndrome individuals are missing all or part of one of their sex chromosomes. About half of girls with Turner syndrome have only one X chromosome (45,X). Another third have two X chromosomes, but part of one X is missing. Other individuals with Turner syndrome have a mosaic pattern: some of their cells are missing an X chromosome (45,X), while other cells have different chromosome composition (such as 46,XX) Turner syndrome may be diagnosed throughout the life span, including adulthood, if signs are subtle. Signs that indicate a karyotype is needed can include:
-Fetal abnormalities such as cystic hygroma (fluid around the neck), or incidentally when a routine amniocentesis is performed (e.g., for advanced maternal age)
-Webbed neck (excess skin) or lymphedema (swelling of hands and feet) in newborns
-Specific heart problems in infants
-Slow growth and/or short stature
-Delayed puberty or amenorrhea (lack of menstrual cycles)
-Infertility or menstrual irregularities
At least she won't have to deal with what we are going through... Now I think I really will cry...
Friday, August 7, 2009
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I am so sorry Kristen. Mine came back female too. It is upsetting. What does this mean for you in the future?
ReplyDelete(((((Kristin))))))
ReplyDeleteI don't know what to say, but I am thinking about you.
Oh Kristin. I am so sorry. ((Hugs))
ReplyDelete((((Kristin)))) I have been praying for you and your DH.
ReplyDelete(((((HUGS)))))
ReplyDelete(((((Hugs))))))
ReplyDeleteHi, Kristin. I remember you from the WebMD board and just found your blog. I am so sorry for your loss. You are in my prayers.....
ReplyDeleteLauren
Many, many prayers... we are all thinking about you!
ReplyDeleteMany prayers and thoughts to you Kristin
ReplyDelete((((HUGS))))