Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Old Peds > Lecture 10/3- Genetics > Flashcards

Lecture 10/3- Genetics Flashcards

1
Q

what is FISH? what does it show?

A

Fluorescent in situ hybridization

Use DNA probes to look at karyotype in more detail

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what is direct DNA analysis?

A

PCR for a particular gene (ie BRCA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what uses tiny DNA probes?

A

Microarray Comparative Genomic Hybridization

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what are the most common cause of congenital malformation syndromes?

A

Unknown causes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

List some autosomal dominant disorders?

A

Marfan’s Syndrome
Huntington’s Chorea
Achondroplasia
Neurofibromatosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Autosomal dominant disorder are often related to genes that code for what?

A

structural proteins (collagen)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

most common autosomal recessive disorders you will pick up in peds?

A

inborn errors of metabolism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

List some autosomal recessive disorders

A 
PKU – phenylketonuria
Galactosemia
Homocystinuria
Cystic fibrosis
CAH  congenital adrenal hyperplasia
Sickle cell anemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Autosomal recessive disorders involve mutations in genes that usually code for what?

A

enzymes.

are also associated with serious illness and shortened life span

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what is hemophilia’s problem?

A

bleeding in the joints

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what are some sex linked disorders?

A

Fragile X syndrome
Duchenne and Becker muscular dystrophy
G6PD deficiency
Hemophilia A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

what is an X linked dominant disorder

A

Rett Syndrome (girls)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

normal karyotype, 2 copies of 1 chromosomes from 1 parent

A

Uniparental Disomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

the presence of an extra chromosome

A

Trisomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

the absence of a whole chromosome

A

monosomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

the 180° rotation of a part of a chromosome

A

Inversion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

the breakage and rejoining of parts of two, non-homologous chromosomes

A

Translocation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Uniparental disomy is thought to be ….

A

from a “rescue mechanism” for a trisomy (or monosomy)

Example 15q11.2 chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

If you have 2 copies of 15q11.2 from mom what syndrome do you have?

A

Prader Willi Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

If you have 2 copies of 15q11.2 from dad what will you have?

A

angelman syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is T13?

A

Patau syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

what type tone do kids with Down Syndrome have?

A

Decreased tone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

what will the eyes of a child with down syndrome look like?

A

mongoloid slant to eyes with epicanthal folds

eyes slant up just a bit (laterally)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

what will the face of a child with down syndrome look like?

A

small midface

depressed nasal bridge

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

how do you plot the growth of a child with down syndrome?

A

plot on a growth chart

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

what is a common heart problem in children with down syndrome?

A

AV canal due do endocardial cushion defect

VSD< ASD, valve disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

what endocrine disorder are down syndrome kids at risk for?

A

hypothyroidism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

what GI problems will children with down syndrome have?

A

duodenal atresia

tracheo-esophageal fistula

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

people with down syndrome have a greater risk of developing what cancer?

A

leukemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what trisomy is likely to die before delivery?

A

Trisomy 13- Patau’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

what occurs with children with T18- Edwards syndrome?

A

Cleft lip/ palate
congenital heart disease
horseshoe kidneys (fused in middle)
pyloric stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Where do Patau’s syndrome (T13) occur?

A

Midline problems
like Edward’s with holoprosencepahly 9failure of brain to divide)
Abnormal hands/feet- rocker bottom better, clinodactyly

33
Q

what occurs with DiGeorge syndrome? (deletion on 22q11)

A 
Tetraology of Fallot
hypoplastic thymus (see on x-ray) 
immunodeficiency
absent parathyroid
hypocalcemia 
nose full in lower part of bridge
mouth is small and slack 
low ears
34
Q

Main symptoms with Cri du chat (5 p deletion)?

A

laryngeal hypoplasia, high pitched cry

35
Q

If you see rocker-bottom feet what should you suspect?

A

Trisomy 13 (potentially 18)

36
Q

other problems with 5 p deletion.

A

Developmental delay
craniofacial dysmorphism
clef lip/ palate

37
Q

what is the most common cause of cognitive disabilities in males?

A

Fragile X

38
Q

what is associated w/ Fragile X?

A

social anxiety
learning disabilities
ritualistic behaviors

39
Q

Other physical manifestations of Fragile X?

A

hyperextensiability of joints
pectus excavatum
large testicles

40
Q

Main features of Kinefelter Syndrome

A

Hypogonadism and lack of sexual development
Gynecomastia
Infertility

41
Q

How do you treat a male with Klinefelter Syndrome?

A

hormone replacement

42
Q

what is the standard width between eyes?

A

One extra eye

43
Q

features of achondroplasia

A

large head and forehead

long bones are short

44
Q

how would you describe the forehead of a person with achondroplasia

A

frontal bossing

45
Q

Clinically significant abnormalities in either form or function. Result from error in morphogenesis ( 1st trimester)

A

Congenital malformation

46
Q

Normal morphogenesis but environmental factors disturb normally developing tissue

A

Deformation

47
Q

A single malformation leads to other structural changes

A

Malformation Sequence

48
Q

Recognizable pattern of anomalies that results from a single identifiable underlying cause – may include malformations, deformations

A

Malformation Syndrome

49
Q

what is an example of a malformation syndrome?

A

T21- cardiac, craniofacies, CNS, limbs

50
Q

whats an example of a malformation sequence?

A

Pierre Robin

primary- failure of growth of mandible which secondarily leads to U shaped cleft palate and glossoptosis

51
Q

problems with Pierre Robin sequence?

A

difficultly eating

on back, tongue may block trachea

52
Q

What are Recognizable pattern of malformations?

A

Association

53
Q

What does VACTERL stand for?

A 
Vertebral anomalies
Anal atresia
Cardiac defects
Tracheoesophageal fistula
Renal anomalies
Limb anomalies
54
Q

What does CHARGE stand for?

A

C- Coloboma of the eye, central nervous system anomalies
H - Heart defects
A - Atresia of the choanae
R - Retardation of growth and/or development
G - Genital and/or urinary defects (Hypogonadism)
E - Ear anomalies and/or deafness

55
Q

which time is a fetus most susceptible to teratogens?

A

1st trimester

56
Q

what are some potent vasoconstrictions

A

tobacco
cocaine
meth

57
Q

what days are there a high degress of sensitivity

A

days 18-60

58
Q

when does a cleft palate occur?

A

during the embryonic and early fetal stages

59
Q

what can the cleft palate affect?

A

pituitary gland

60
Q

what are some bacterial diseases that are teratogens

A

Syphilis
Gonorrhea (NB)
Chlamydia (NB)

61
Q

what will a child with fetal alcohol syndrome have?

A

Smooth philtrum
short palpebral fissures
flat midface
thin upper lip

62
Q

are anticonvulsants a teratogen?

A

Yes

63
Q

TORCH presentation

A 
Thrombocytopenia – petechiae
Hepatolsplenomegaly
IUGR
Microcephaly
Hydrocephalus
Mental Retardation
64
Q

Inborn errors of metabolism are typically missing what?

A

an enzyme which lead to an excess of substrate or deficiency of product

65
Q

2 examples of carbohydrate disorders

A

Glycogen storage diseases

galactosemia

66
Q

what happens with glycogen storage disease

A

glycogen can’t be convert glucose.
Fats for energy leads to ketones
Protein for energy leads to ammonia

67
Q

how can you treat glycogen storage disease?

A

Limit free sugar, infusionsof uncooked cornstarch for slow release of glucose

68
Q

What happens with galactosemia?

A

accumulation of galactose -1- phosphate in liver and renal tubules

69
Q

List some amino acid disorders

A

Urea cycle disorders
Tyrosinemia
Homocystinuria
PKU

70
Q

what causes PKU

A

lacking enzyme that turns phenyalanine into tyrosine

71
Q

in PKU what does phenylalaine turn into and is found in the urine?

A

phenylpyruvic acid

72
Q

General characteristics of IEM?

A 
Failure to thrive
lethargic 
vomiting (severe) 
progressive ataxia 
acidosis
73
Q

what organ doesn’t function well if you are very acidodic?

A

Heart

74
Q

what can a baby with IEM present like?

A

Shock

flu-like

75
Q

how can you look for acidosis?

A

Blood gas

76
Q

if its a carb disorder what might you have?

A

low blood glucose

77
Q

if your ammonia levels are high what are you using for energy?

A

proteins

78
Q

If a baby shows up in shock what three things should you suspect

A

Infection
Inborn error of metabolism
cardiac problem

79
Q

If you were using fatty acids for energy what lab would you want to see?

A

Lactate

Old Peds (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions