Examen

1. In general methylation of CpG islands may be linked to

2. What are CpG islands

3. ... of gene expression finalizes with a synthesis of

4. Human DNA is condensed to chromatin

5. histone code refers to

6. Indicate an optimal method to detect aneuploidy in a patient

7. The structure that allows each duplicated eukaryotic chromosome to be pulled into a daughter cell is called a

6. features of fetal alcohol syndrome include:

7. which feature is not characteristic for ADPKD?

8. Which patient has the features MOST suggestive of marfan syndrome?

9. Features of angelman syndrome include:

10: Elongated palpebral fissures with eversion of the lateral third of the lower eyelid and fetal pads are typical for:

11: Two siblings were referred to a clinical geneticist because of the short stature, progressive hepatosplenomegaly, coarsening of facial features and skeletal abnormalities. The diagnosis of autosomal recessive disease was established. What is the name of the disease?

12: An 8-month old boy with the diagnosis of werdnig-hoffmann disease (confirmed by genetic tests) was referred to a clinical geneticist. Parents ask about prognosis and the course of the disease. You will inform them that the Werdnig- Hoffmann disease characteristic are:

13: Which features are typical for ataxia-telangiectasia?

14: people with albinism caused by mutation in TYR gene have hypopigmentation of skin and hair and:

15: What is the risk of inheriting the disease by offspring of a man with tuberous sclerosis?

16: A male newborn with pierre-robin sequence, shortening and bowing of long bones and ambiguous genitalia was consulted after birth by a clinical geneticist who established the diagnosis and ordered a molecular test. What syndrome was recognized?

17: in sanfilippo syndrome:

18: What is NOT a principal indication of amniocentesis?

19: what will develop without anti- müllerian hormone?

20: mutation in which gene is responsible for PAIS ( part.... Syndrome)?

21: which symptoms may suggest congenital adrenal hyperplasia in a two week old male?

22: a female with complete androgen insensitivity syndrome has:

23: a woman with a cerebellar hemangioblastoma was referred to a clinical geneticist her father died due to renal cell carcinoma. What will you suspect?

24:when diagnosis of hereditary breast cancer should be established (definitive diagnosis)

25: first trimester screening for fetal anomalies includes:

26: which patient fulfills criteria for MEN2A syndrome?

27: congenital hypertrophy of the retinal pigment epithelium is characteristic for:

28: according to ISCN rules, a translocation is described as:

29: find a balanced aberration:

30: Find a numerical aberration:

32: Find a possible cytogenetic result for a patient with patau syndrome:

33: Find a possible cytogenetic result for a patient with turner syndrome:

35: What is the abbreviation for the additional chromosome of unknown origin according to ISCN

36: A Robertsonian translocation may occur between chromosomes:

37: CBG techniques is used for the analysis of:

38: what is a theoretical risk of Down syndrome in case of the following karyotypes in the parents: 45XX,der(21;21)(q10;q10) and 46, XY?

40: which sentence about klinefelters syndrome is correct?

42: which microdeletion syndrome is characterized by cleft lip/palate?