Clinical genetic exam 20

According to the ISCN rules, a correct description of a translocation is:

Find a balanced abberation:

FInd an unbalanced aberration:

According to the International System for Human Cytogenomic Nomenclatur (ISCN) the abbreviation “r” means:

Karyotype 69,XXY is an example of: 

A test-tube for molecular analysis should contain:

What laboratory test could confirm the diagnosis of Williams syndrome: 

What laboratory test should be chosen to confirm he diagnosis of Klinefelter syndrome:

aCGH may be used to:

MLPA technique is:

Low birth weight is typical for:

1. Silver-Russel syndrome
2. Smith-Lemli-Opitz syndrome
3. Beckwith-Wiedemann syndrome
4. Down-syndrome

Self-hugging, sleep disturbances and aggressive behaviour characterisitc phenotype of:

Short stature does not appear in:

Increased risk of neoplasia appears in the following syndromes:

1. Klinefelter syndrome
2. Beckwith-Wiedemann syndrome
3. Down-syndrome
4. Williams syndrome
5. Smith-Magenis syndrome

FAP is caused by mutations in:

Increased nuchal translucency found on ultrasound at 13th week of pregnancy and holoprosencephaly at 21st week of pregnancy are symptoms that are suggestive of:

Maternal phenylketonuria:

Find the CORRECT combination:

Which of the following is NOT an indication of amniocentesis?

Tripoidy:

1. is lethal 
2. is caused mainly by dispermia
3. is one of aneuploidy
4. is one of polyploidy
5. may be mosaic

PALB2 germiline mutations increase the risk of:

Subsequent steps of neoplastic transformation are:

Existence of different clones of cancer cells within the tumor may be explained by:

Molecular background of carcinogenesis includes:

Genes related to DNA mismatch repair have their highest expression in the:

HER2 gene amplification is an example of:

BCR-ABL fusion gene occurs as an effect of:

In most cases, the iheritance pattern of Fanconi anemia is:

According to Knudson "two hits" hypothesis, in hereditary cancers:

"Double minute chromosomes" are:

What symptoms might be found in the spectrum of Cockayne syndrome?
Indicate the right compilation:

1. photosensitivity
2. small stature
3. progressive neurologic degeneration
4. birdlike facies
5. cancer predisposition
6. microcephaly

Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are:

Non-random chromosome rearrangements in ataxia-teleangiectasia and Nijmegen syndrome selectively affect:

RB1 is a:

Severe but proportional dwarfism, sun sensitivity, butterfly-shaped facial erythema, narrow face, with prominent nose and increased susceptibility to infections and malignancies are symptoms of

Growth retardation, skeletal defects, progressive bone marrow failure and increased risk of leukemia are typically seen in individuals with:

Leukocoria and strabismus are often the first symptoms of:

An increased risk of Wilms tumor can be found in the spectrum of:

Li-Fraumeni Syndrome should be suspected in the individuals who

Lisch nodules in patients with NF1 are