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Turner Syndrome (ie Ullrich-Turner) is a genetic difference that has a spectrum of effects. It only affects females and can cause short stature, wide spaced nipple placement and congenital lymphedema (swelling of hands and feet). Incidence is estimated at 1 in 2500 births.1
Males have sex chromosomes XY and females have XX chromosomes. Females with Turner syndrome are missing an X chromosome in their cells and thus have 45 chromosomes instead of 46. There are a number of genetic variations (mosaic, deletions etc)2 that are possible in females with Turner syndrome, but these subtle differences often cannot be diagnosed without more sophisticated technology. Therefore the final genetic makeup of a child with Turner syndrome would likely be done when the child comes to the USA for further workup and testing.
There is a wide spectrum of issues that can be present in Turner syndrome. Some are identified at birth with identified swelling of hands and feet and other females are only identified later in life when they present with premature ovarian failure or infertility.
Some of the theoretical risks for a child born with Turner syndrome are:1
Turner syndrome can be difficult to diagnose with the information we get from other referring countries. Kids typically have a normal growth velocity until about 3 years old and many children come home to the USA prior to that age. Many of the early signs such as lymphedema (hand and/or feet swelling) may have been present but were possibly not noticed or noted on the documentation, or the child may have not been in care yet. However despite the list of possible issues above, girls with Turner syndrome can lead remarkable and productive lives. As a group, their IQ’s are well in the normal range and the other issues are typically addressable by surgical or medical interventions.
This article was generously shared by Dr. Judith Eckerle of the University of Minnesota, Adoption Medicine Clinic. Child referrals are becoming increasingly complex, and adoption medicine professionals are identifying many more children with special needs from all countries that participate in intercountry adoption, as well as from the United States. To help families prepare for these changes, Dr. Eckerle and other medical specialists are writing a book: Health Topics For Preadoptive Families.
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