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Erstellt / Aktualisiert 13.05.2019 / 23.01.2020
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0 Exakte Antworten 0 Text Antworten 56 Multiple Choice Antworten
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Find a FALSE statement:


Sporadic retinoblastomas are caused by germline RB1 mutaions

RB1 is a tumor suppressor gene

Mutations in RB1 gene that cause retinoblastomas are classified as ”loss-a-function”

RB1 mutations carriers have a 100% risk of developing retinoblastoma

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Which answers presents examples of mismatch repair gene





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Which patient(s) meet the clinical criteria of neurofibromatosis type 1

  1. 16-year-old male with seven cafe au lait spots of 2cm in diameter each and scoliosis
  2. 7-year-old boy witg short and several fibromas
  3. 18-year-old female with two Lisch nodules and freckling in the armpits
  4. 16-year-old female with one plexiform neurofibroma and groin freckling 
  5. A 7-year-old boy with 5 cafe au lait spots of 1cm in diameter each and one cutaneous neurofibroma


1, 2, 5

3, 4, 5

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Find INCORRECT statement about Prader-Willi syndrome?

Hypogonadism is typically observed in patients with Prader-Willi syndrome

Maternal uniparental disomy with the respect to the PWS region (11p15) might account for the development of Prader-Willi syndrome

In some clinical situations correct results of FISH for the PWS region do not exclude a diagnosis Prader-Willi syndrome

Hypotonia is newborns with Prader-Willi syndrome represents one of clinical criteria

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A 26-year-old women in her second pregnancy comes to seek your advice. The child from gestation I has Duchenne muscular dystrophy. To answer the question if the foetus is affected by the sane disorder, you suggest.

Prenatal 3D ultrasound examination, in which reduced volume of proximal muscles will be diagnostic for Duchenne muscular dystrophy

A molecular diagnostic test performed on DNA obtained from Amniocytes

FISH test performed on foetal DNA obtained chorionic villus sampling

Sequencing of the DMD gene performed on DNA obtained from mother’s and father’s leukocytes

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Find a correct statement about translocation

It is always unbalanced aberration

Robertsonian translocation may involve chromosome 13,14,15,16,21 and 22

It is always a balanced aberration

It may account for miscarriage

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What might be the primary defect in the Potter sequence?


Pulmonary hypoplasia


Renal agenesis

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Which numerical chromesome aberration is characterised by cleft lip/palate

Willaim syndrome

DiGeorge syndrome

Patau syndrome

Edwards syndrome