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Different age groups in the Association |
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Everyone's experience will be different |
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Individuals with KS are as unique as anyone else in the population |
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Impossible to give a talk everyone in the room
will identify with |
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Brief historical background |
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Some basic genetics |
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Basic medical information and developmental
progress |
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Questions |
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The pattern was first described by Dr Harry
Klinefelter and his co-workers in 1942 in 9 men with fertility problems |
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The correct chromosome number (46) in human
cells was not discovered until 1956 |
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The genetic basis of Klinefelter syndrome was
discovered in 1959 |
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There are many variations from this standard
pattern |
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At least 1 in 500 individuals in the general
population will have a variation which can be seen down a microscope |
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Variations in the pattern of sex chromosomes are
particularly common |
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Any baby with a Y chromosome is male |
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At least 1 in 1000 boys are born with an XXY
pattern also known as KS |
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Each parent gives a half set of genetic
information to their child i.e. one of each chromosome pair |
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This means that when we are making egg or sperm
cells we need to halve our genetic information to put into each cell |
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Its actually quite common for some egg or sperm
cells to be made which have a missing, or extra chromosome |
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Many individuals with KS are never diagnosed
because they have no medical problems |
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The reason the chromosome test is requested does
tend to divide individuals with KS into different groups |
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For example, a man who goes to a fertility
clinic is less likely to have had any problems at school |
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On routine amniocentesis |
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During school years |
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At puberty |
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In a fertility clinic |
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Early milestones are usually within normal
limits but speech may be slower. Speech therapy can be very helpful in this
situation |
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Other aspects of learning such as reading and
writing may benefit from more one to one help |
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Important to remember that intelligence in the
general population falls over a wide range and the same is true in KS |
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Individuals with KS are no more prone to
congenital problems than other boys |
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They are often several inches taller than would
be expected for their family |
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They may have a tendency to put on weight easily |
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Individuals with KS go into puberty normally but
may not keep pace with their peers |
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Some breast development is common in all teenage
boys but this is increased in KS |
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In the majority of boys this resolves without
treatment but a small number will want excess tissue removed |
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Most men with KS will not be fertile but they do
have normal relationships |
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There are options open to them in terms of
having children and these are changing over time |
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We see many families/ individuals where a
diagnosis has been made |
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We give information and advice |
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Referral on to appropriate specialists in your
area e.g. paediatricians, endocrinologists, fertility clinics |
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Open door policy for follow up as new questions
arise |
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Receive referrals from GPs and hospital doctors |
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