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5 Genetics BOFs
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"Best Of Five Questions For MRCP UK And Ireland Examinations"

Dr. Osama Amin MBChB, MRCPUK part I,MRCPI part I ,MRCPI part II written
Senior House Officer and 4th year student of the…..Board of Neurology.
....... Teaching Hospital /Department of Neurology

Dedication to The Republic Of Iraq and Iraqi Doctors all over the world.
Q1
Klinefelter's syndrome …. All are true except;
1-gynecomastia is seen only in 30% of cases
2-the affected person may have a 48 XXYY kryotyping
3-short stature is more common than tall stature
4-cardiac anomalies are very rare
5-some degree of low intelligence may be seen

Answer 3
1-a secondary phenomenon to hypogonadism
2-many other karyotypes are seen
3-false, the reverse, due to hypogonadism and delayed epiphyseal closure
4-true….unlike Turner's sundrome
5-usually very mild and does not affect performance that much

Q2
Turner syndrome, all are true
1-aortic coarctation is not the only cause of hypertension
2-branch pulmonary artery stenosis suggests Noonan's syndrome rather than Turner's
3-lymphedema of the hands and feet may be seen early in life
4-large doses of growth hormone therapy can induce an increase in height
5-hormonmqal replacement therapy can be used to induced fertility in the majority of patients

Answer 5
1-true…renal anomalies are common which may be the cause also
2-Turner's syndrome has left sided cardiac lesions unlike Noonan's syndrome which has right sided cardiac lesions
3-true.usuallty transient
4-true…….watch for side effects like gall stones
5-false…….only to induce the appearance of secondary sexual characteristics……..they are totally and irreversibly infertile

Q3
The followings are autosomal recessive ….except:
1-phenylketonuria
2-famial Mediterranean fever (FMF)
3-occulocutaneous albinism
4-Wilson's disease
5-familal hypercholesteremia

Answer 5
The Word "Familial" almost always indicates an autosomal dominant inheritance ………..FMF is an exception!!
Inborn errors of metabolism are usually autosomal recessive

Q4
Serum maternal alpha fetoprotein may be raised in all of the followings except:
1-twin pregnancy
2-threatened abortion
3-spina bifida
4-hepatocelluar carcinoma
5-postdate pregnancy

Answer: 5
Post-date pregnancy state is not associated with elevated serum AFT

Q5
Amniocentesis ………all are true except:
1-the risk of abortion is lower than that of chorionic villous sampling (CVS)
2-usually performed around 14-16 weeks of gestation
3-cytological examination may be used to detect karyotyping
4-usually done blindly
5-useful in the prenatal diagnosis of congenital adrenal hyperplasias

Answer 4
1-true…….. Abortion still may occur even in experienced hands
2- True….when the size of the uterus is large enough...but still it is considered to be a LATE investigation ………..CVS can done much earlier so that intervention can be done early also
3-true….as well as many enzymes assessment
4-false ………..under ultrasound guidance
5-by finding an elevated level of 17 hydroxy progesterone in the amniotic fluid


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