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Turner syndrome
Code: 45X0 C. DIAGNOSTIC TESTING
KARYOTYPING-sample of peripheral venous
characteristics blood or a scraping of cells from the
buccal membrane is taken.
Has only 1 functional Low set hair line Cells are allowed to grow until they reach
X chromosome Webbed neck metaphase- most easily observed phase
Gonadal dyagenesis Cells are stained, placed under a microscope
Can be identified Short in structure and photographed
with an UTz during Has only streak (small Chromosomes are identified according to size,
pregnancy because and nonfunctional) shape and stain
of the increase neck ovaries
folds Sterile MATERNAL SERUM SCREENING
Exception of pubic -Done at 15th week of pregnancy
hair; secondary sex Alphafetoprotein (AFP)- a glucoprotein
characteristics do not produced by the fetal liver
develop at puberty Peak is between 13th and 32nd week of pregnancy
Newborns= edema on RESULT: if elevated – it means spinal cord
the hands and feet disease/ neural tube defects
With coarctation If below – it means chromosomal
(stricture) of aorta disorder/Down syndrome
and kidney disorder MSAFP (Maternal Serum Alphafetoprotein)
Severely cognitively
challenge CVS (Chorionic Villi Sampling
– a diagnostic techniques that involves the
Klinefelter syndrome retival and analysis
of chorionic
Code: 47XXY
villi from the growing placenta for chromosome
or DNA
characteristics analysis
Commonly done at 8-10 weeks r 10-12 weeks of
Males Absence of secondary pregnancy
With an extra X sex characteristics May be done as early as 5 weeks
chromosome Small testes- produces
ineffective sperm
Gynecomastia
( enlarged breast size)
Increased risk of male
breast cancer
FETAL IMAGING
MRI and UTZ = used to assess a fetus for
general size and structure disorder of the
internal organs, spine and limbs
GENETIC COUNSELING
Provide concrete, accurate information
about the process of inheritance and
inherited disorder
Reassure people who are concerned that
their child may inherit a particular
disorder that the disorder will not occur
Allow people who are affected by
inherited disorder to make informed
choices about future reproduction
Offer support on people who are affected
by genetic disorder
Observe data privacy ideal time for
counseling is before 1st pregnancy
IMPORTANCE OF GENETIC
COUNSELLING
1. Aid in determining the risk of disease
2. Help in identifying a hereditary condition