Genetics Flashcards
18)Which of the following is not true?
A) Gross structural abnormalities are present in 80-85% of spontaneously
aborted embryos
B)Chromosome abnormalities are found in about 50% of all spontaneous abortions
C)Epicanthal fold is an example of miner anomaly
D)Cleft lip palate and meningomyelocele are the examples of major anomaly
E)Sequence is consistent and recognizable patterns of abnormalities wih a known underlying cause
E)Sequence is consistent and recognizable patterns of abnormalities wih a known underlying cause
(19)Which of the following is not true?
A)In genetic counseling, it is important to establish whether malformations are isolated ora re associated with
ether abnormalities
B)Association is the findings that occur
as a consequance of a cascade of events initiated by a single primary factor
C)Digital amputation due to amniotic bands is example of disruption
D)Club foot is an example of deformation and occurs late pregnancy
E)Most malformations involving only a single organ show multifactoral inheritance
B)Association is the findings that occur
as a consequance of a cascade of events initiated by a single primary factor
20)Which of the following is not true?
A)An acrocentric chromosome has its centromere next the tip
B)Triploidy is an example of an aneuploidy
C)The most common cause of aneuploidy is nondisjunction during meiosis
D)Hypotonia, low nasal root, upslanting palpebral fissures, cardiac defects, brachicephaly are the clinical features of trisomy 21
E)The recurrence risk for Down syndrome among mothers younger than 30 years is about 1%
B)Triploidy is an example of an aneuploidy
21)Which of the followings is not true?
A)Extra chromosome is contributed by the father in 90% to 95% of trisomy 21 cases
B)Hypertonia, prenatal growth deficiency, clenched hands, congenital heart defects are the clinical features of the edwards syndrome
C)A translocation is the interchange of genetic material between nonhomologous chromosomes
D)Oral-facial clefts, microphthalmia, postaxial polydactyly,hearth defects are seen in Patau syndrome
E)in trisomies of the 13th and 18th chromosomes 90% or more of affected fetuses are spontaneously aborted
A)Extra chromosome is contributed by the father in 90% to 95% of trisomy 21 cases
22)Which of the following is not true?
A)Lymphedema of the hands and feet, webbed neck are observable as birth in Turner syndrome
B)Short stature and/or amenorrhoa, cardiovasculary and renal defects are seen in Trisomy X syndrome
C)Taller than avarage, sparse body hair, reduced muscle massa re the features of 47 XXY syndrome
D)45 X and 47 XXY cause infertility
E)SHOX gene deletions are responsible for the short stature
B)Short stature and/or amenorrhoa, cardiovasculary and renal defects are seen in Trisomy X syndrome
23)Which of the following is not true?
A)Clinical features of 47 XYY and 47
XXX syndrome are mild
B)Intelligence is usually normal in 45X syndrome
C)Hormone therapy is importent in turner and klinefelter syndromes
D)In familial translocation cases, there is no increased recurrance risk of down syndrome
E)Trisomy 16 is thought to be most common trisomy at conception
D)In familial translocation cases, there is no increased recurrance risk of down syndrome
24)Which of the followings is not true?
A)The carries of reciprocal translocation can have a baby with duplications or deletions of genetic material
B)Translocation between chromosomes 14 and 21 is an example of robertsonian translocation
C)Di George syndrome is one of the microdeletion syndromes
D)A deletion at 15q11-13, on the maternally inherited chromosome 15 causes Angelman syndrome.
E)If both 15th chromosomes comes from father causes Prader Willi syndrome
E)If both 15th chromosomes comes from father causes Prader Willi syndrome
25)Which of the followings is not an indication of chromosome analysis?
A)Parents and children of person with chromosomal translocation deletions or duplications
B)Mental retardation with multipl physical abnormalities
C)Stillborn infants with malformation
D)Females with short stature and primary amonerrhea
E)Isolated polydactly with a family history
E)Isolated polydactly with a family history
26)Which of the following is not true?
A)In pedigree, all members of the same generation are placed on the same horizantal level
B)The affected individual who caused the consultant to seek advice is called the proband
C)Informative pedigree and describing dysmorphic features is very important to make genetic diagnosis
D) Accurate diagnosis is of paramount importance for meaningful genetic counselling
E) Recurrence risk calculation is not necessary in genetic counselling
E) Recurrence risk calculation is not necessary in genetic counselling
27)Which of the following is not true?
A)Counseling must be nonjudgemental and nondirective
B)If a couple has had 3 or more first trimester spontaneous miscarriages, chromosomal analysis is indicated for each
C)If abnormality recurrence risk is high in the offspring, prenatal diagnosis is recommended
D)Genetic counselling consists of outlining the clinical features, complications, natural history prognosis and treatment
E)Counseling one of the parents about the genetic condition is sufficient
E)Counseling one of the parents about the genetic condition is sufficient
28)Which of the following is not a type of genetic approach to the common disease
A)Population/migration studies
B)Family studies
C)Twin studies
D)Adeption studies
E) Physiological studies
E) Physiological studies
29)Which of the following is not true?
A)Patients with type 1 diabetes have the HLA DR3 and/or DR4 alleles mostly
B)Environmental factors are very important in the aetiology of hypertension
C)High levels of LDLs are associated with an increased risk of coronary artery disease
D)Factor V Leiden and the prothrombin mutations increases obesity risk
E)Polymorphism association studies describes particular occur more commonly in individuals affected with a particular disease than in the population
D)Factor V Leiden and the prothrombin mutations increases obesity risk
- Which of the following is NOT true?
a) Hypotonia, low nasal root, upslanting palpebral fissures, cardiac defects, brachicephaly are the clinical features of trisomy 21
b) The risk of bearing a child with autosomal trisomy increases with advanced maternal age
c) Chromosome abnormalities are found in about 50% of all spontaneous abortions
d) Reciprocal translocation carriers can have offspring with duplications or deletions
e) Short stature and/or amenorrhea, cardiovasculary and renal defects are seen in Triple X syndrome
e) Short stature and/or amenorrhea, cardiovasculary and renal defects are seen in Triple X syndrome
A newborn with prenatal growth deficiency, small mouth-jaw, clenched hands, hypertonia. What is your Bre-diagnosis?
a) Edwards syndrome
b) Down syndrome
c) Patau syndrome
d) Williams syndrome
e) Di-George syndrome
a) Edwards syndrome
- Which of the following is NOT true?
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1
, a) There is no risk for carriers of a reciprocal translocation having a baby with chromosome anomaly
b) 45.X and 47 XXY causes infertility
c) Chromosome abnormalities are seen in 50% of first trimester spontaneous abortions
d’ Females with short stature and primary amenorrhea should be directed to chromosome analysis
e) Hypotonia, low nasal root upslanting palpebral fissures, cardiac defects,brachycephaly are the clinical features of the down syndrome
