Clinical Genetic Test

97. Paternal uniparental disomy might account for the developmental…

98. A two-hit hypothesis developed by Knudson describes the biology of: 

99. Find true statement about familial adenomatous polyposis (FAP):

100. A definitive diagnosis of hereditary breast cancer can be established in case of:

101. Incorrect results of first trimester screening test implies that:

102. 46, XX karyotype and a female phenotype with ambiguous genitalia in newborn most  likely indicate a diagnosis of:

103. Which of the following aberration might be found using a CGH?:

> similar question earlier not sure about this one<

104.  Find balanced aberration:

105.  What is the abbreviation for an isochromosome according to ISCN rules:

106. Find a correct description of a translocation according to ISCN rules:

107. The cytogenetic analysis may be performed in the following tissue:

108. The order of chromosome harvesting is:

109. What is the standard time needed for blood culture:

120. The abbreviation CGH means:

111.  In GTG staining light bands are:

122. ’’A morphologic anomaly arising either prenatally or postnatally from dynamic or ongoing alteration of cellular constitution, tissue organization or function within a specific organ or a specific tissue type’’. This definition describes:

113. A five-year-old boy was referred to clinical genetics unit. Physical examination revealed short stature, relative macrocephaly, right lower limb longer than the left one and dysmorphic features (triangular-shaped head with small jaw and pointed chin, prominent forehead and bilateral 5^th finger clinodactyly). This phenotype suggests a diagnosis of: 

114. Increased nuchal translucency (NT) might indicate: 

115. Hypergonadotropic hypogonadism is not typical for:

116. How many Barr bodies will be present in patients with the 45, X karyotype?

117. What karyotype and gonads do you expect in a male patient with congenital adrenal hyperplasia?

118. What is the most common cause of congenital adrenal hyperplasia? What is the mode of inheritance?

119.  A 16+-year-old girl was referred to clinical genetics unit due to intellectual disability, dysmorphic features (i.e. prognathism, synophrys), behavioral disturbances 9 attacks of aggressive behaviors) and sleep abnormalities. Which diagnosis should be taken into account?

120. Meconium ileus is typical for:

121. Mutations in DNA repair genes underlie the development of:

122.  Find a false statement about mutations in the dystrophin gene:

123. A definitive diagnosis of hereditary breast/ovarian cancer can be established in the following family: 

124.  A 32-year-old woman was referred to clinical genetics unit because of premature ovarian failure. Her father developed tremors and ataxia at the age of 69years.  What is the most likely diagnosis in this case?

125. Indicate obligatory carriers in the pedigree from the previous question: 

126. Which disease can be inherited in the manner presented in the question with the pedigree:

127.  The triple test should be performed in the following period of pregnancy:

128. Hypotelorism is typical for:

129. Find a set of malignancies that are most typical for Li-Fraumeni syndrome:

130. What management should be recommended during every pregnancy in a woman who is the carrier of balanced translocation between chromosomes 6 and 13?

131. Which syndromes increase the risk of oncogenesis?

132. Hereditary non-polyposis colorectal cancer is a cancer predisposition syndrome caused by:

    >also known as Lynch Syndrome & HNPCC<

133. Which statement about Huntington disease is true:

134.  Clinical symptoms of Angelman syndrome include:

136.  Mutations in DMD gene:

137. The following are steps for FISH:

1. Hydrozillation
2. Denaturation
3. DAPI staining
4. Probe applying