Genetics

Question 1

Barlow test is positive when

Answer 1

Sensation of posterior movement and relocation on gentle anterior traction

Question 2

The first step in mitochondrial oxidative phosphorylation involves

Answer 2

Acetyl coenzyme A

Question 3

What is the word for disruption of early skeletal patterning processes ?

Answer 3

Dysostosis

Question 4

Encephalopathy with high ammonia with acidosis versus without acidosis

Answer 4

WITH- organic acidemia, pyruvate metabolism defect, mitochondrial
WITHOUT- urea cycle defect (abnormal aa profile) , transient hyperammonia of newborn

Question 5

Transient diabetes of neonate is an imprinting defect in what chromosome

Answer 5

6. Sax. Fat diabetic black guy Playing saxophone

Question 6

What genetic test to do when looking for uni parental disomy disorder

Answer 6

SNP microarray

Question 7

Where does cell free fetal dna originate from and is it longer or shorter than maternal cell free dna ?

Answer 7

Placenta
shorter

Question 8

Which imprinting disorder has the following: IUGR, triangular face with broad forehead, pointed chin, leg length asymmetry, 5th finger clinodactyly, cryptorchidism

Answer 8

Silver Russell

Question 9

What syndrome is lethal autosomal recessive caused by primary cilia mutation with large polycystic kidneys, pulmonary hypoplasia, post axial polydactyly, occipital encephalocele

Answer 9

Mechel Gruber syndrome

Question 10

What is massive parallel shotgun sequencing ?

Answer 10

Sequences the whole genome and pregnant lady and fetus in one test. Highly sensitive for aneuploidy

Question 11

Most commonly used Biomarker of oxidative stress is

Answer 11

Ratio of reduced to oxidized glutathione

Question 12

What is one of the best understood epigenetic modifications in relation to developmental events ?

Answer 12

DNA methylation of cytosine of a CpG dinucleotide

Question 13

When a baby has an elevated lactate, what two types of lactate may be contributing ?

Answer 13

L lactate - tissue hypoxia
D lactate - increased production due to enteric bacteria

Question 14

What is next generation sequencing ?

Answer 14

Short nucleotide adapters are ligated to DNA fragment ends like bar codes can ID a persons DNA

Question 15

What inborn error of metabolism has hypoglycemia with abnormally LOW ketones?

Answer 15

Fatty acid oxidation defect

Question 16

Most common major criteria for CHARGE

Answer 16

Cranial nerve defect

Question 17

Large fontanelle with wide sutures is associated with what dysplasia ?

Answer 17

Cleidocranial dysplasia Big headed Clyde

Question 18

Are most genes with mitochondria defects inherited from mother or do the mutations occur in nuclear genes ?

Answer 18

Nuclear genes

Question 19

Beckwidth wiederman - mechanism of altered imprinting ?

Answer 19

Loss of methylation of imprinting control region 2 on maternal chromosome

Question 20

Is VACTRL a disruption, deformation, association of sequence ?

Answer 20

Association - group of anomalies occurring more frequently together than would be expected but with no unifying cause

Question 21

Gene associated with campomelic dysplasia

Answer 21

SOX9- super short Sox Stranger things socks

Question 22

Does maternal weight affect cell free dna ?

Answer 22

Yes. # cff DNA in relation total DNA is less

Question 23

Mosaic pattern of turners with increased risk of gonadoblastoma

Answer 23

45X/46XY

Question 24

Baby with jeune syndrome who doesn’t stool at 48 hours like has
…

Answer 24

Hirshprung. Actual association

Question 25

Primary risk factor for DDH

Answer 25

Fetal movement restriction