Variants 2023 Flashcards
(55 cards)
Metacentric chromosome pairs are:
1st; 3rd; 16th; 19th; 20th chromosome pair
The cytogenic diagnosis of a man with Rhetore syndrome is:
- 46 XY 9p
- 46 XY 9p+
which of the diseases is included in mass screening?
klinefelter syndrome
which of the following disorders are X linked?
- Everything EXCEPT for Von Willebrand Disease
what is the most common condition resulting in disproportionate small stature?
achondroplasia
which of the following characteristics is NOT typical for multifactorial inheritance?
- Sex Predilection
a mutation in which genes causes lynch syndrome
MMR genes: MLH1, MLH2, MSH6, PMS2, EPCAM
In which of the diseases is observed locus and alleic heterogenity
thalassemia beta
which of the diseases mostly affects women due to the high mortality in male fetuses
Retts syndrome
what would you recommend to a pregnant woman who has a 1:90 risk for downs syndrome from
the early biochemical screening test
prenatal diagnosis because her risk is high
Which of the following screening tests is with HIGHEST sensitivity for Aneuploidies in 12 week of pregnancy?
- NIPT
For which disease is Kaiser-Flasher’s Ring characteristic?
wilson-konovalov disease
the error in meiosis that produces 47XYY is best described by which of the following?
meiosis division II of paternal spermatogenesis
a female with turner syndrome is denoted by which of the following cytogenic notations?
- 45 X
- 46, X, r(X)
which staining technique is used to visualise the heterochromatin blocks in a 1;9;16 chromosome pair?
G banding
a girl with early developmental and speech delay is able to progress to third grade but is falling fourth grade. evaluation shows an elongated body habitus like her mother with somewhat lax joints. Genetic evaluation is suggested, and a chromosomal analysis reveals a 47 XXX karyotype with normal fragile X DNA studies. Which of the following descriptions best fits this abnormality?
sex chromosome aneuploidy
A person is the only one in their family affected by a genetic conditions. genetic testing shows that the condition is due to a de novo pathogenic variant.
Based on this information, which
condition is LEAST likely to be affecting this person?
Cystic fibrosis (CF)
Ectrodactyl causes missing middle fingers (lobster claw malformation) and exhibits genetic heterogeneity with autosomal dominant and recessive forms.
one type of ectrodactyl (split handfoot malformation) is an autosomal dominant trait. a grandfather and grandson have this form of ectrodactyl, but the intervening father has normal hands by x-ray.
which of the following terms
applies to this family?
Incomplete Penetrance
An infant with severe muscle weakness is born due to a mother with mild muscle weakness and myotonia.
The mother’s father is even less affected, with some frontal baldness and cataracts.
Worsening symptoms in affected individuals of successive generations suggest with of the following inheritance mechanisms?
- Unstable Trinucleotide Repeats
What is the term for cells that have a mixture of mitochondria containing “mutated” and wild-type DNA?
Heteroplasmic
Current protective data show the highest risk of what type of cancer in women with pathogenic variants in the BRCA1 or BRCA2 genes?
- Breast
- Ovarian
A Child has severe, autosomal recessive neonatal disorder. What’s the chance his healthy 5 Year old Sister is a Carrier?
- 25%
What is the term for the type of DNA modifications that DO NOT alter the DNA Sequence, but which can affect the activity of a gene?
- Epigenetic
To try to determine the cause of a patient’s condition, researchers decide to analyse the patient’s transcriptome. In the planned transcriptome sequencing what will be interrogated?
- RNA
