1. The father has Marfan syndrome, an autosomal dominant genetic disorder, while the mother does not show any signs of the disease.
2. Marfan syndrome can cause serious heart and blood vessel complications and is inherited in an autosomal dominant pattern, meaning there is a 50% chance affected individuals will pass the disease-causing gene to each child.
3. The couple was advised of the risks of having a child with Marfan syndrome, including heart problems. Prenatal testing was recommended to determine if the fetus had the disease-causing gene so the couple could make an informed decision.
2. • This scenario for the genealogy below and determine what diseases are
likely to occur in this pattern of inheritance and determine the impact of that
disease on several consecutive generations of this family. Then say
according to the disease and the pattern
• Inheritance of what advice you give to clients
3. Couples have referred for diagnostic counseling during their
pregnancy. Initially, a history of pregnancy and the couple's health
status and medical history in the couple's family were taken. The
specialist noticed a father had has of marfan syndrome because as well
as during the counseling the women was notice are family history of
her hasband was marfan syndrome and The couple did not mention
any other medical history in their family. for this reason he requested
that a blood sample be taken from the mother and father and sent to a
laboratory to determine the mother and father chromosome
abnormality, which resulted in:
4. According to the karyotype that we observe from the female chromosome are normal but the
male chromosome, we notice that he is a carrier marfan syndrome .
The karyotypes of the client with Marfan's syndrome were normal in their general features,
but systematic analysis of the lengths of chromosomes 1–2, the Y, and 21–22 revealed that the
chromosomes 21–22 of the patients were relatively shorter than those of normal persons
5. Marfan Syndrome - Is a AD disorder of the connective tissue. Affected people
have varies signs symptoms such as tall, and thin, with long arms, legs,
fingers, typically have flexible joints and scoliosis. The most serious
complications involve the heart and aorta with an increased risk and of mitral
valve prolapse and aortic aneurysm.Marfan syndrome is inherited in families
in an autosomal dominant manner. Approximately seventy-five percent of
individuals who have Marfan syndrome have a parent who also has the
condition (inherited)
6. Autosomal dominant disorders : are the most prevalent Mendelian cardiovascular
genetic disorders Examples of autosomal dominant cardiovascular disorders include
hypertrophic cardiomyopathy (HCM), Marfan's syndrome (MFS), hereditary long
QT syndrome (LQTS), and familial hypercholesterolemia
Autosomal dominant inheritance:
1. Infection and transmission of disease and genes occur in both sexes.
2. The probability of infecting the sick person's children is 50%.
3. The disease occurs vertically in successive generations.
7.
8. • According to these scenario Identify the pattern of inheritance of the
genealogy facing and identify possible diseases of this type of inheritance,
then say what advice you give to the clients, And what effect does this
disease have on future generations?
• the father has marfan syndrome but mother are healthy , This graph are
autosomal dominant disease because the main point from dominant are the
disesd transfer to all female from second generation. In the third generation,
a boy inherits the disease because the father have X and Y chromosome and
this diseas are transfer to fourth generation and 2 child will be effected one
male and one female
9. Like our case where the father is a carrier but the sex of the fetus is not known if the fetus is male.
There is a 25% chance that he will get sick and if she is female ,and 75%chance that she will get
sick , the girls incidence to received is higher then because this is a dominant autosomal inherent
disease.
10. Explained to them the dangers of giving birth to a baby with marfan
syndrome ;
If the baby is sick, it is 90% likely to get sick and Tall and slender build.
Disproportionately long arms, legs and fingers. A breastbone that protrudes
outward or dips inward. A high, arched palate and crowded teeth.Heart
murmurs. Extreme nearsightedness. An abnormally curved spine. Flat feet
He will have a part in doing his personal work. But if their child is a girl, go
back It will take 50% of the disease gene and pass it on to its offspring Dad.
Therefore, it is important to diagnose the disease in the fetus and from the
birth of such a baby.
11. Both the financial and psychological burden on society will be prevented. After
conducting examinations, they found out that the couple had a disease in the
female and male fetus and requested an abortion was issued and the couple
was referred to forensic medicine for an abortion permit. Once they are
diagnosed as carriers or not, the risks of having a baby with such a disease
should be explained to them so that they can make the right decision. Of
course, we must point out that couples may need amniocentesis and sampling
of chorionic villi or aminocytes to diagnose the disease in the fetus in order to
detect the presence of this mutation before birth to prevent the birth of an
infected baby.
