Genetics/Dx/Screening
The disease name for 45,X?
Turner Syndrome
TS affects mostly males. T/F?
False
No
Turner syndrome is almost always inherited (T/F)
False
If Trisomy is represented as 2n+1, what is Monosomy represented as?
2n-1
older age in women,
family hx of genetic abnormalities,
previous baby w/ a birth defect/miscarriage,
a chromosomal abnormality in one of the parents.
NURSE approach?
Naming
Understanding
Respect
Support
Explore
What substance arrests the cells at prophase/metaphase while performing Karyotyping?
Colchicine(poisons mitotic spindle)
List at least two pre-natal cytogenetic testing/screening/diagnostic available for Turner syndrome
Pre-natal cell-free DNA screening(cfDNA),
Ultrasound
The First Trimester Combined Screen (FTCS)
The triple test or second trimester maternal serum screen
Non-invasive prenatal testing (NIPT)
List at least 5 symptoms of Turner Syndrome
shorter than average,
underdeveloped ovaries, resulting in a lack of monthly periods and infertility,
Extra folds of skin on the neck (webbed neck),
a low hairline at the back of the neck,
puffiness or swelling (lymphedema) of the hands and feet,
skeletal abnormalities,
kidney problems,
1/3rd have Heart defect,
Developmental delays, nonverbal learning disabilities, and behavioral problems are possible.
Give one way in which an audiologist could help someone with Turner syndrome?
Hearing aid, FM system in school,
Academic/Education Support for Speech and Language Intervention.
Give at least 2 other names for Turner Syndrome
45,X,
Monosomy X,
Ullrich-Turner syndrome
At what age/life stage is a child usually diagnosed with TS?
birth (prenatally), during infancy or in early childhood.
List two options if chromosomal abnormality is detected?
e.g. if the man has an abnormal gene, you'd do artificial insemination.
Contraception
Artificial insemination if the man has an abnormal gene
Use egg from another woman if the woman has an abnormal gene
In vitro (test tube) fertilization with analysis of the embryo's genes before the embryo is transferred to the woman’s uterus (called preimplantation genetic diagnosis)
Give at least two ways in which an endocrinologist could help someone with Turner syndrome?
Daily injection of growth hormone (which improves final height by ~ 3 inches).
Anabolic steroid (oxandrolone ~ 9 yrs of age)
Oestrogen (gradually increasing doses ~12 or 14 years of age)
Maintained by progesterone, using either the oral contraceptive pill or hormone replacement therapy.
Define Cytogenetics
How the chromosomes relate to cell behavior. (particularly to their behavior during mitosis and meiosis).
1) Define Nondisjunction;
2) Which stage of 3) Which cell division does it take place in?
1) Error that happens during spermatogenesis or oogenesis in which one of the X chromosomes is not separated into a cell.
During the 2) meiotic cell division 3) Anaphase of Mitosis or Meiosis.
Discuss/give examples using NURSE approach
Team effort :)
Naming
Understanding
Respect
Support
Explore
Give at least two ways in which an endocrinologist could help someone with Turner syndrome?
Duplex Collecting Systems: Condition in which a kidney has two ureters. Causes a back-flow of urine that can result in frequent UTIs and potential damage the kidneys.
both kidneys lie on the same flank, where they can potentially be fused together - haematuria, flank pain, dysuria
kidneys fuse together and create a horseshoe shape - no symptoms.
antibiotics, to surgical realignment.
Fused kidneys cannot be separated; If the malformation is identified before they fuse, and there is an obstruction to the kidneys, the patient can undergo pyeloplasty to reposition the kidneys into their original state.
Briefly mention other genetic testing methods
FISH Analysis (Fluorescent in situ hybridisation)
Comparative genomic hybridisation (CGH) array
comparative genomic hybridisation (aCGH).