In conclusion, Down–Klinefelter’s syndrome is a rare chromosomal abnormality . Patient present with physical characteristics of Down’s syndrome at birth and Klinefelter’s syndrome features at during puberty.
Is Klinefelter syndrome caused by trisomy?
Klinefelter syndrome is caused by an additional X chromosome . This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.
Can you have Klinefelter and Down syndrome?
The classic form is the most common chromosomal disorder, in which there is one extra X chromosome resulting in the karyotype of 47,XXY [18]. Double aneuploidy was first described in a patient with both Down and Klinefelter (48, XXY,+21) syndromes. This is also the most commonly described double aneuploidy.
What is Down syndrome and Klinefelter syndrome attributed to?
In 1959, Down syndrome was shown to be associated with an extra chromosome in the G group 1 ; Klinefelter syndrome was associated with an extra X chromosome 2 ; and a case of double aneuploidy, a 48,XXY,G + male, was reported. In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy.
Is 47 XXY Down syndrome?
3.2. Down and Klinefelter syndrome (47,XXY) Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals.
What is the life expectancy of a person with Klinefelter syndrome?
According to studies, Klinefelter syndrome (KS) can shorten life expectancy up to 2 years depending on whether complications associated with the condition develop. Early detection and treatment, including special educational interventions, may improve the outlook of this disease.
Who is most likely to get Klinefelter syndrome?
Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. This is written as XXY. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.
What is Turner Klinefelter syndrome?
Turner syndrome (TS) (45X or X0) and Klinefelter syndrome (KS) (47XXY or XXY) are common sex chromosome aneuploidies (SCAs) in humans with an approximate occurrence of 1 in 2,000 female and 1 in 600 male livebirths, respectively (1). TS is due to the partial or complete absence of an X chromosome in females.
What is the difference between Klinefelter syndrome and Turner’s syndrome?
The most common are Klinefelter syndrome (KS), resulting from the gain of an X chromosome in males , and Turner syndrome (TS), reflecting the loss of an X chromosome or the presence of a structurally different X chromosome in females.
What causes Klinefelter syndrome?
Klinefelter syndrome is caused by an additional X chromosome . This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.
CAN XXY have babies?
It is possible that an XXY male could get a woman pregnant naturally . Although sperm are found in more than 50% of men with KS 3 , low sperm production could make conception very difficult.
What is super male syndrome?
XYY syndrome
What are the odds of Down syndrome being passed?
Genes are passed from parents to children. About 1 in 700 babies (less than 1 percent) is born with Down syndrome.
How do you know if you have Klinefelter’s syndrome?
Longer legs, shorter torso and broader hips compared with other boys. Absent, delayed or incomplete puberty. After puberty, less muscle and less facial and body hair compared with other teens. Small, firm testicles.
What are the chances of having a child with Klinefelter syndrome?
It is estimated that 1 in every 500 to 1,000 newborn males has an extra X chromosome, making Klinefelter syndrome one of the most common chromosomal disorders seen among newborns. Variants of Klinefelter syndrome (such as 48,XXXY, 49,XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns.
What is the quality of life with Klinefelter syndrome?
A Danish survey report, by Skakkebæk et al, indicated that persons with Klinefelter syndrome tend to have reduced mental and physical quality of life , caused directly by Klinefelter syndrome and indirectly by factors that, compared with controls, include lower levels of income, physical activity, and sexual function.
