This is a nucleotide sequence that remains present in the final mature RNA product; i.e. it is not spliced out.
What is an exon
100
Disease characterized by clenched hands, malformed ears, cardiac defects, horseshoe kidney, small jaw.
Bonus - median survival
What is trisomy 18 / Edward's syndrome.
Bonus - 14 d
100
In females, gametogenesis (mitosis of germ cells) occurs at this stage of development
What is fetal. Male is mostly in puberty. Following mitosis - undergoes meiotic division.
100
Canavan disease is AR disease with deficiency of aspartoacylase enzyme causing these CNS problems
What is hypotonia, large head, seizures, developmental delay
100
This is the description of if a genetic trait results in a phenotypic expression in certain individuals
What is penetrance
200
This is the difference between mitosis and meiosis.
What is mitosis is the division of cell resulting in two genetically identical daughter nuclei. Meiosis is DNA replication with two rounds of cell division to produce four daughter cells with half the chromosomes.
200
These are the characteristics of trisomy 13 / Patau's syndrome.
Bonus - increased risk of this pregnancy complication.
What are cardiac, holoprosencephaly, hypotelorism, polydactaly.
Bonus - preeclampsia
200
Once the sperm goes past the corona radiata and binds the zona pellucida, zygote is formed. The fertilized egg then completes this process to form 2 pronuclei
What is meiosis II
200
This disease is caused by IKBKAP gene resulting in neurologic problems such as abnormal suck / feeding, vomiting, labile temps and BPs
What is familial dysautonomia.
200
This term refers to the degree to which phenotypic features are expressed
What is variable expressivitiy
300
DNA -> RNA (via RNA polymerase)
What is transcription
300
This is the definition of robertsonian translocation and it most often occurs on this chromosome
What is the fusion of two long-arms of two acrocentric chromosomes and chromosome 14
<5% of RPL
300
This is the inheritance pattern of hemophilia
What is x-linked recessive.
300
Inheritance pattern for sickle cell disease and this is how it is diagnosed
What is AR, electrophoresis
300
This is the differential diagnosis for echogenic bowel
What is trisomy 21, CMV, CF
400
Translation of RNA to protein occurs via these steps
What is initiation, elongation, translocation, termination
400
This is an individual that has 2 or more cyto genetically distinct cell lines from one zygote.
Bonus - often seen in this karyotype
What is mosaicism. Turners. (XO) - accounts for wide phenotype. Can be confined to placenta.
400
These are the clinical findings in an individual affected with Tay-Sachs disease (hexosaminidase A deficiency)
What are neurological, motor, and mental dysfunction with childhood death. Incidence 1/30 carrier for Ashkenazi jews (or 1/300 otherwise)
400
This is how to diagnose alpha thalassemia
What is molecular genetic testing (not electrophoresis)
400
Women undergoing radiation in pregnancy should be counseled on fetal risks of what possible adverse outcomes
What are childhood leukemia and teratogens
500
These are the short fragments of discontinuous DNA that are formed on the lagging strand during DNA replication - they are eventually joined to become a single continuous strand.
What are okazaki fragments.
500
Characteristics of 46 XXY
What is Klinefelter syndrome. Slight association with AMA and APA. Tall, small testes, infertile d/t gonadal dysgenesis. Normal IQ (-ish)
500
This form of testing for tay-sachs disease should be recommended in a low-risk population (vs this form in high risk)
What is biochemical analysis / leukocyte testing (vs DNA analysis).
500
This is the risk of recurrent NTD with and without folic acid supplementation. These are the findings on US