BPT CLINICAL; INTERNAL MEDICINE CLINICAL
GENETICS EXAM 2026 QUESTIONS AND
100% CORRECT AND VERIFIED ANSWERS
GRADED A+
• 1
INT - 16.1
Among the following monogenic diseases predisposing for
tumorigenesis which one is not autosomal dominantly
inherited?
A) multiple endocrine neioplasia type 1
B) von Hippel–Lindau disease
C) ataxia teleangiectasia
D) multiple endocrine neioplasia type 2
E) neurofibromatosis type 1
C) ataxia teleangiectasia
The majority of monogenic tumor syndromes are autosomal
dominantly inherited as multiple endocrine neoplasias type 1
and 2, von Hippel-Lindau disease and the most prevalent
monogenic tumor syndrome, neurofibromatosis type 1. Ataxia
teleangiectasia predisposes to lymphoma and cerebellar
degeneration. The error of DNA repair enzymes leads to the
formation of ataxia teleangiectasia, Bloom-syndrome,
,xeroderma pigmentosum, Fanconi-anaemia ataxia
teleangiectasia all of which are autosomal recessively inherited.
• 2
INT - 16.2
At which pregnancy age is amniocentesis recommended?
A) 4–6 weeks
B) 10–12 weeks
C) 15–17 weeks
D) 20–22 weeks
E) 24–26 weeks
C) 15–17 weeks
Amniocentesis is regularly performed at 15-17 weeks of
pregnancy.
• 3
INT - 16.3
Among the following chromosome abnormalities which one
is the most frequent?
A) Turner-syndrome
B) Edwards-syndrome
C) Down-syndrome
D) Patau-syndrome
E) Williams-syndrome
,C) Down-syndrome
Among the listed chromosome abnormalities Down syndrome is
the most frequent with an incidence in live-borns of
approximately 1:800. The other listed chromosome
abnormalities are much rarer.
• 4
INT - 16.4
What does the term penetrance mean?
A) the frequency of a genetic alteration
B) the frequency of a certain phenotype int he case of a certain
genotype
C) a form of genetic regulation
D) the expression of small molecular weight RNAs
E) region of chromosomal regulation
B) the frequency of a certain phenotype int he case of a certain
genotype
Penetrance means the ”power” of a certain genotype to produce
a certain phenotype and show how frequent a certain phenotype
is in case of a certain genotype. Some diseases are
characterized by high penetrance (e.g. medullary thyroid cancer
in the case of multiple endocrine neoplasia type 2 is present in
approximately 100%) while other diseases have low penetrance
(in the case of haemochromatosis only 1%).
, • 5
INT - 16.5
What proportion of the human genome is protein-coding?
A) 3%
B) 10%
C) 25%
D) 40%
E) 60%
A) 3%
The proportion of protein-coding regions in the human genome
is only 3%. Previously, the rest 97% was considered ”junk DNA”
not having any relevance in gene expression. However, recent
data confirmed important regulatory regions within this 97% and
utmost importance of the non-coding genome in species
specificity and variability has been shown as well.
• 6
INT - 16.6
Which one of the following diseases has the lowest
penetrance?
A) multiple endocrine neoplasia type 1
B) multiple endocrine neoplasia type 2
C) neurofibromatosis type 1
GENETICS EXAM 2026 QUESTIONS AND
100% CORRECT AND VERIFIED ANSWERS
GRADED A+
• 1
INT - 16.1
Among the following monogenic diseases predisposing for
tumorigenesis which one is not autosomal dominantly
inherited?
A) multiple endocrine neioplasia type 1
B) von Hippel–Lindau disease
C) ataxia teleangiectasia
D) multiple endocrine neioplasia type 2
E) neurofibromatosis type 1
C) ataxia teleangiectasia
The majority of monogenic tumor syndromes are autosomal
dominantly inherited as multiple endocrine neoplasias type 1
and 2, von Hippel-Lindau disease and the most prevalent
monogenic tumor syndrome, neurofibromatosis type 1. Ataxia
teleangiectasia predisposes to lymphoma and cerebellar
degeneration. The error of DNA repair enzymes leads to the
formation of ataxia teleangiectasia, Bloom-syndrome,
,xeroderma pigmentosum, Fanconi-anaemia ataxia
teleangiectasia all of which are autosomal recessively inherited.
• 2
INT - 16.2
At which pregnancy age is amniocentesis recommended?
A) 4–6 weeks
B) 10–12 weeks
C) 15–17 weeks
D) 20–22 weeks
E) 24–26 weeks
C) 15–17 weeks
Amniocentesis is regularly performed at 15-17 weeks of
pregnancy.
• 3
INT - 16.3
Among the following chromosome abnormalities which one
is the most frequent?
A) Turner-syndrome
B) Edwards-syndrome
C) Down-syndrome
D) Patau-syndrome
E) Williams-syndrome
,C) Down-syndrome
Among the listed chromosome abnormalities Down syndrome is
the most frequent with an incidence in live-borns of
approximately 1:800. The other listed chromosome
abnormalities are much rarer.
• 4
INT - 16.4
What does the term penetrance mean?
A) the frequency of a genetic alteration
B) the frequency of a certain phenotype int he case of a certain
genotype
C) a form of genetic regulation
D) the expression of small molecular weight RNAs
E) region of chromosomal regulation
B) the frequency of a certain phenotype int he case of a certain
genotype
Penetrance means the ”power” of a certain genotype to produce
a certain phenotype and show how frequent a certain phenotype
is in case of a certain genotype. Some diseases are
characterized by high penetrance (e.g. medullary thyroid cancer
in the case of multiple endocrine neoplasia type 2 is present in
approximately 100%) while other diseases have low penetrance
(in the case of haemochromatosis only 1%).
, • 5
INT - 16.5
What proportion of the human genome is protein-coding?
A) 3%
B) 10%
C) 25%
D) 40%
E) 60%
A) 3%
The proportion of protein-coding regions in the human genome
is only 3%. Previously, the rest 97% was considered ”junk DNA”
not having any relevance in gene expression. However, recent
data confirmed important regulatory regions within this 97% and
utmost importance of the non-coding genome in species
specificity and variability has been shown as well.
• 6
INT - 16.6
Which one of the following diseases has the lowest
penetrance?
A) multiple endocrine neoplasia type 1
B) multiple endocrine neoplasia type 2
C) neurofibromatosis type 1
