Genetics Flashcards
Barlow test is positive when
Sensation of posterior movement and relocation on gentle anterior traction
The first step in mitochondrial oxidative phosphorylation involves
Acetyl coenzyme A
What is the word for disruption of early skeletal patterning processes ?
Dysostosis
Encephalopathy with high ammonia with acidosis versus without acidosis
WITH- organic acidemia, pyruvate metabolism defect, mitochondrial
WITHOUT- urea cycle defect (abnormal aa profile) , transient hyperammonia of newborn
Transient diabetes of neonate is an imprinting defect in what chromosome
- Sax. Fat diabetic black guy Playing saxophone
What genetic test to do when looking for uni parental disomy disorder
SNP microarray
Where does cell free fetal dna originate from and is it longer or shorter than maternal cell free dna ?
Placenta
shorter
Which imprinting disorder has the following: IUGR, triangular face with broad forehead, pointed chin, leg length asymmetry, 5th finger clinodactyly, cryptorchidism
Silver Russell
What syndrome is lethal autosomal recessive caused by primary cilia mutation with large polycystic kidneys, pulmonary hypoplasia, post axial polydactyly, occipital encephalocele
Mechel Gruber syndrome
What is massive parallel shotgun sequencing ?
Sequences the whole genome and pregnant lady and fetus in one test. Highly sensitive for aneuploidy
Most commonly used Biomarker of oxidative stress is
Ratio of reduced to oxidized glutathione
What is one of the best understood epigenetic modifications in relation to developmental events ?
DNA methylation of cytosine of a CpG dinucleotide
When a baby has an elevated lactate, what two types of lactate may be contributing ?
L lactate - tissue hypoxia
D lactate - increased production due to enteric bacteria
What is next generation sequencing ?
Short nucleotide adapters are ligated to DNA fragment ends like bar codes can ID a persons DNA
What inborn error of metabolism has hypoglycemia with abnormally LOW ketones?
Fatty acid oxidation defect
Most common major criteria for CHARGE
Cranial nerve defect
Large fontanelle with wide sutures is associated with what dysplasia ?
Cleidocranial dysplasia Big headed Clyde
Are most genes with mitochondria defects inherited from mother or do the mutations occur in nuclear genes ?
Nuclear genes
Beckwidth wiederman - mechanism of altered imprinting ?
Loss of methylation of imprinting control region 2 on maternal chromosome
Is VACTRL a disruption, deformation, association of sequence ?
Association - group of anomalies occurring more frequently together than would be expected but with no unifying cause
Gene associated with campomelic dysplasia
SOX9- super short Sox Stranger things socks
Does maternal weight affect cell free dna ?
Yes. # cff DNA in relation total DNA is less
Mosaic pattern of turners with increased risk of gonadoblastoma
45X/46XY
Baby with jeune syndrome who doesn’t stool at 48 hours like has
…
Hirshprung. Actual association
Primary risk factor for DDH
Fetal movement restriction
