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Symptoms And Diagnosis Of Ullrich Turner Syndrome

646 words - 3 pages

Turner’s syndrome (TS) also known as Ullrich- Turner syndrome, is a genetic chromosomal disorder that affects roughly about 1 in 2,000 live born female infants. This disorder is caused by the absence genetic material from one of the sex chromosomes during fetal development, other developmental problems occurs after birth. Sex chromosomes are: X and Y, which are responsible for developing either (XY) male or (XX) female. A male fetus inherits the X chromosome from his mother and the Y chromosome from the father. While female fetuses inherit one X chromosome from each parent. If a female has Turner syndrome, one copy of the X chromosome is partially missing, altered or completely missing. The following genetic alterations forms of Turner syndrome: Monosomy, the X chromosome is completely absent, this happens when there’s an error in the mother’s egg or father’s sperm, this occurs randomly. The result is every cell in the fetus body being only X chromosomes. Mosaicism can happen in cell division during early fetal development stages. When this happen cells in the fetus, may have two complete copies of the X chromosome, while others may have one of the X chromosomes and the other cells may have only one copy and one altered copy.Y chromosomes material, are labeled in a very small percentage of TS patients, some cells have one copy of the X chromosome, while others have Y chromosome material. Biologically, these fetuses develop as females, but the Y presences chromosome material increases develop a type of cancer called gonadoblastoma. At birth or infancy Turner’s syndrome may be apparent including:

• Web- like neck or wide neck
• Smaller than the average birth weight
• Swelling in hands & feet (especially at birth)
• Low- set ears
• Low hair line at the nape of the head
• Drooping eyelids
• Sensitivity to noises
• Broad shield-like chest
• Widely spaced nipples
• Fingernails growth in an upwards fashion
• Arms that turns inward at elbows (cubitus valgus)


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