Sex Chromosome Disorders (RF) Flashcards
What are the 3 sex chromosome abnormalities?
1- deletion
2- monosomy
3- trisomy
What is deletion?
part of a sex chromosome is missing e.g X and then part of Y missing
What is monosomy?
one whole chromosome is missing e.g X not connected to Y
What is trisomy?
an additional sex chromosome e.g XXY
can be more e.g tetrasomy
What sex chromosome abnormality does turner syndrome have?
monosomy
What is turner syndrome?
a female-specific genetic disorder with random occurrence
occurs with X chromosome
grow at a normal rate until age of 3 when start to slow down
What are the 2 types of turner syndrome?
classic (X chromosome completely missing)
mosaic (other X Is somewhat missing or incomplete)
How can diagnosis of turner syndrome happen before baby is born?
using amniocentesis
but usually diagnosed during childhood using blood test
What are some treatments for Turner syndrome?
growth hormone therapy
oestrogen and progesterone therapy
IVF
Liedmeier et al (2020) findings from questionnaire
Those with turner syndrome showed impairments in all psychosocial variables e.g anxiety, autism, self esteem
What type of sex chromosome abnormality occurs in Klinefelter syndrome?
trisomy
What is Klinefelter syndrome?
a male specific genetic disorder
have an extra X chromosome - result of gamete having an extra X
produce less testosterone
What are some symptoms of Klinefelter syndrome?
long, slender limbs
female fat distribution
What are some symptoms of Klinefelter syndrome in adulthood?
being infertile
low sex drive
What are some treatments for Klinefelter syndrome?
testosterone replacement therapy
speech therapy during childhood
physiotherapy
artificial insemination
Turriff et al (2016) findings from open ended questions
found over half reported challenges in finding healthcare professions knowledgable about XXY
