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47xxy Syndrome
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Published on Mar 22, 2016
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PRESENTATION OUTLINE
1.
47 XXY
(klinefelter syndrome)
2.
What is 47 XXY?
47 XXY is a genetic condition caused when someone has 2 X chromosomes and one Y chromosome.
It affects male physical and cognitive development.
3.
HOW COMMON IS IT?
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5.
CHARACTERISTICS OF 47 XXY
taller than average/ longer arms + legs
learning disabilities
less muscular bodies
more belly fat + wide hips
6.
47 XXY INFO
affected individuals' testes do not produce enough testosterone
testosterone is the horomone that directs male sexual development
a shortage of testosterone can results in incomplete puberty, as well as..
breast enlargement, reduced facial and body hair, and infertility
7.
WHAT IS 47 XXY (CONTINUED)...
people with this are considered genetic males due to the Y chromosome
most will develop as males, not knowing they have an extra X chromosome
some will develop the subtle characteristics of this syndrome, but..
a small proportion will develop as intersex or female
physical characteristics will appear around puberty
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9.
MEDICAL CONDITIONS ASSOCIATED WITH 47 XXY
osteporosis (weak bones)
varicose veins (swollen veins filled with abnormal collection of blood)
type 2 diabetes
heart valve defects
just as likely as xx femalesto develop breast cancer
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11.
HOW IS 47 XXY DIAGNOSED?
if suspected of having 47 xxy, doctors will use a karyotype
karyotype= analysis of a patients chromosomes tsken from blood sample
can also be diagnosed during pregnancy...
...doctors will look for chromosomal abnormalities in the cells of the amniotic fluid
as many as 75% of individuals are never diagnosed
12.
CAN 47 XXY BE TREATED?
most don't recieve treatment
teens/adults who wish to be treated can be givin horomones
the horomones used are testosterone and estrogen
testosterone will help develop male characteristics, and estrogen female characteristics
surgery can also remove breast tissue in males
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15.
FUN FACTS
no famous people have suffered from Klinefelter
in 1942 Harry Klinefelter discovered this disease
Klinefelter is NOT inherited;
chromosomal mutation occurs during formation of reproductive cells
16.
SOURCES
learn.genetics.utah.edu/content/disorders/chromosomal/klinefelter
ghr.nlm.nih.gov/condition/klinefelter-syndrome
coc.unm.edu/common/manual/klinefelter_syndrome.pdf
healthresearchfunding.org/famous-people-klinefelter-syndrome
alex rice
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