GENETICS 2020

Wilms tumor is frequently observed in:

Non invasive methods of prenatal diagnosis/screening are

MLPA method

Which structures in females arise from Mullerian ducts

The risk of death in breast cancer patients with constitutional PALB2 mutation during 10 years following tumor diagnosis incase of tumor size above 2 cm is around:

Features reducing the risk of breast cancer in BRCA1 carriers include:

7) HNPCC susp.can be diagnose when 45 years old colorectal cancer patient has

Chose a cause of deformation

Diseases are inherited with X-chromosome are:

Two the most common genes among cancers associated with high risk of tumors are:

Becker muscular dystrophy:

Surveillance options for BRCA1 carriers include:

Infertility is observer in following syndrome:

In diagnosis of single gene disorders you can use:

Which of these causes mental retardation in boys:

Huntington disease

What is the safest gestational age to perform amniocentesis:

Genetic risk for polyigenic disorders in relatives of an affected person:

Colorectal cancer associated syndromes are:

If a patient is suspected to have FAP, what is recommended:

Which of the following embryonal structures make male organs

HNPCC should be suspected in family where 41 year old woman is diagnosed with colorectal cancer and additionally:

25% Risk of disease in siblings of an affected man is characteristic for:

Father of Down sy. Baby has 45,XY,t(21;21) karyotype.

Daughter of a man affected by Hemophilia will be a carrier of this disease with a probability of:

) Sign methods decreasing breast cancer risk in BRCA1/2 carriers:

Following are the examples of aneuploidy:

Familial aggregation of cancers is characteristic for

Increased risk of following neoplasms in VHL mutation carriers:

A patient (46,XY) with MIF (AMH) mutation is:

Pedigree presentation corresponding to autosomal dominant inheritance pattern is characteristic for:

In 30 year old patient asymptomatic retinal hemangioblastoma was detected. Proper management includes:

Prophylactic adnexectomy is indicated in BRCA1 carriers because it:

Finding of MLH1 constitutional mutation in patient from family with endometrial and small bowel cancers will lead todiagnose:

Chose major abnormalities:

Autosomal dominant traits:

In differential diagnosis between HNPCC and FAP it is recommended to consider occurrence of:

Optimal treatment of breast cancer patients with BRCA1 constitutional mutation should include:

Select true statements for the Sanger Sequencing method. Select one or more:

What is trisomy?