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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

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2
Q

what is direct DNA analysis?

A

PCR for a particular gene (ie BRCA)

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3
Q

what uses tiny DNA probes?

A

Microarray Comparative Genomic Hybridization

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4
Q

what are the most common cause of congenital malformation syndromes?

A

Unknown causes

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5
Q

List some autosomal dominant disorders?

A

Marfan’s Syndrome
Huntington’s Chorea
Achondroplasia
Neurofibromatosis

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6
Q

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

A

structural proteins (collagen)

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7
Q

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

A

inborn errors of metabolism

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8
Q

List some autosomal recessive disorders

A 
PKU – phenylketonuria
Galactosemia
Homocystinuria
Cystic fibrosis
CAH  congenital adrenal hyperplasia
Sickle cell anemia
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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

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10
Q

what is hemophilia’s problem?

A

bleeding in the joints

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11
Q

what are some sex linked disorders?

A

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

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12
Q

what is an X linked dominant disorder

A

Rett Syndrome (girls)

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13
Q

normal karyotype, 2 copies of 1 chromosomes from 1 parent

A

Uniparental Disomy

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14
Q

the presence of an extra chromosome

A

Trisomy

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15
Q

the absence of a whole chromosome

A

monosomy

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16
Q

the 180° rotation of a part of a chromosome

A

Inversion

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17
Q

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

A

Translocation

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18
Q

Uniparental disomy is thought to be ….

A

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

Example 15q11.2 chromosome

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19
Q

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

A

Prader Willi Syndrome

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20
Q

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

A

angelman syndrome

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21
Q

What is T13?

A

Patau syndrome

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22
Q

what type tone do kids with Down Syndrome have?

A

Decreased tone

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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)

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24
Q

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

A

small midface

depressed nasal bridge

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25
how do you plot the growth of a child with down syndrome?
plot on a growth chart
26
what is a common heart problem in children with down syndrome?
AV canal due do endocardial cushion defect | VSD< ASD, valve disorders
27
what endocrine disorder are down syndrome kids at risk for?
hypothyroidism
28
what GI problems will children with down syndrome have?
duodenal atresia | tracheo-esophageal fistula
29
people with down syndrome have a greater risk of developing what cancer?
leukemia
30
what trisomy is likely to die before delivery?
Trisomy 13- Patau's
31
what occurs with children with T18- Edwards syndrome?
Cleft lip/ palate congenital heart disease horseshoe kidneys (fused in middle) pyloric stenosis
32
Where do Patau's syndrome (T13) occur?
Midline problems like Edward's with holoprosencepahly 9failure of brain to divide) Abnormal hands/feet- rocker bottom better, clinodactyly
33
what occurs with DiGeorge syndrome? (deletion on 22q11)
``` 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
Main symptoms with Cri du chat (5 p deletion)?
laryngeal hypoplasia, high pitched cry
35
If you see rocker-bottom feet what should you suspect?
Trisomy 13 (potentially 18)
36
other problems with 5 p deletion.
Developmental delay craniofacial dysmorphism clef lip/ palate
37
what is the most common cause of cognitive disabilities in males?
Fragile X
38
what is associated w/ Fragile X?
social anxiety learning disabilities ritualistic behaviors
39
Other physical manifestations of Fragile X?
hyperextensiability of joints pectus excavatum large testicles
40
Main features of Kinefelter Syndrome
Hypogonadism and lack of sexual development Gynecomastia Infertility
41
How do you treat a male with Klinefelter Syndrome?
hormone replacement
42
what is the standard width between eyes?
One extra eye
43
features of achondroplasia
large head and forehead | long bones are short
44
how would you describe the forehead of a person with achondroplasia
frontal bossing
45
Clinically significant abnormalities in either form or function. Result from error in morphogenesis ( 1st trimester)
Congenital malformation
46
Normal morphogenesis but environmental factors disturb normally developing tissue
Deformation
47
A single malformation leads to other structural changes
Malformation Sequence
48
Recognizable pattern of anomalies that results from a single identifiable underlying cause – may include malformations, deformations
Malformation Syndrome
49
what is an example of a malformation syndrome?
T21- cardiac, craniofacies, CNS, limbs
50
whats an example of a malformation sequence?
Pierre Robin | primary- failure of growth of mandible which secondarily leads to U shaped cleft palate and glossoptosis
51
problems with Pierre Robin sequence?
difficultly eating | on back, tongue may block trachea
52
What are Recognizable pattern of malformations?
Association
53
What does VACTERL stand for?
``` Vertebral anomalies Anal atresia Cardiac defects Tracheoesophageal fistula Renal anomalies Limb anomalies ```
54
What does CHARGE stand for?
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
which time is a fetus most susceptible to teratogens?
1st trimester
56
what are some potent vasoconstrictions
tobacco cocaine meth
57
what days are there a high degress of sensitivity
days 18-60
58
when does a cleft palate occur?
during the embryonic and early fetal stages
59
what can the cleft palate affect?
pituitary gland
60
what are some bacterial diseases that are teratogens
Syphilis Gonorrhea (NB) Chlamydia (NB)
61
what will a child with fetal alcohol syndrome have?
Smooth philtrum short palpebral fissures flat midface thin upper lip
62
are anticonvulsants a teratogen?
Yes
63
TORCH presentation
``` Thrombocytopenia – petechiae Hepatolsplenomegaly IUGR Microcephaly Hydrocephalus Mental Retardation ```
64
Inborn errors of metabolism are typically missing what?
an enzyme which lead to an excess of substrate or deficiency of product
65
2 examples of carbohydrate disorders
Glycogen storage diseases | galactosemia
66
what happens with glycogen storage disease
glycogen can't be convert glucose. Fats for energy leads to ketones Protein for energy leads to ammonia
67
how can you treat glycogen storage disease?
Limit free sugar, infusionsof uncooked cornstarch for slow release of glucose
68
What happens with galactosemia?
accumulation of galactose -1- phosphate in liver and renal tubules
69
List some amino acid disorders
Urea cycle disorders Tyrosinemia Homocystinuria PKU
70
what causes PKU
lacking enzyme that turns phenyalanine into tyrosine
71
in PKU what does phenylalaine turn into and is found in the urine?
phenylpyruvic acid
72
General characteristics of IEM?
``` Failure to thrive lethargic vomiting (severe) progressive ataxia acidosis ```
73
what organ doesn't function well if you are very acidodic?
Heart
74
what can a baby with IEM present like?
Shock | flu-like
75
how can you look for acidosis?
Blood gas
76
if its a carb disorder what might you have?
low blood glucose
77
if your ammonia levels are high what are you using for energy?
proteins
78
If a baby shows up in shock what three things should you suspect
Infection Inborn error of metabolism cardiac problem
79
If you were using fatty acids for energy what lab would you want to see?
Lactate

Old Peds (15 decks)

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