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genetics concepts > Exam 2 Syndromes > Flashcards

Exam 2 Syndromes Flashcards

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1
Q

what is trisomy 21 associated with?

A

down syndrome

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2
Q

what are the symptoms of down syndrome

A 
Heart problems, 
50% vision and hearing problems
mild to moderate mental retardation
14 times more likely to develop AML (leukemia)
Premature aging (life expectancy 55 yrs)
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3
Q

does down syndrome increase or decrease with maternal age

A

sharp increase

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4
Q

what are the risk assessment test for down syndrome

A

triple test and nuchal translucency test

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5
Q

what are some congenital problems of down syndrome

A

60% of Down’s have one or more abnormalities:

40-45% cardiac
10% gastrointestinal
If any baby have either atrioventricular canal (heart) or duodenal atresia;
Down is suspected

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6
Q

what is trisomy 13 associated with

A

patau syndrome

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7
Q

what are some symptoms of patau syndrome

A
  • Average survival period for children with Patau syndrome is 2.5 days, 1 / 20 survive > 6 months
  • multiple malformations
  • severe developmental delay
  • no speech development
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8
Q

what is trisomy 19 assoicated with

A

edwards syndrome

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9
Q

what are the symptoms of edwards syndrome

A

Severe talipes
Horseshoe kidneys
Severe retardation
-low survival rates in first few years

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10
Q

what is the karyotype for turner syndrome

A

45,X (50%)

45,X / 46,XX (20%) and others

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11
Q

what is the karyotype for klinefelter syndrome

A

47 XXY

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12
Q

what is the karyotype for triple x syndrome

A

47 , XXX

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13
Q

what is the karyotype for XYY syndrome

A

47 XYY

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14
Q

what are the incidence rates for turner, klinefelter, triple X, and XYY syndromes respectively

A

TS-1/ 5000 females
KFS- 1/1000 males
XXX S-1/1000 females
XYY S-1/1000 males

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15
Q

what are the clinical features of turner syndrome

A

Short stature, infertility, oedema in womb, neck webbing

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16
Q

what are the clinical features of klinefelter syndrome

A

Tall, gynaecomastia,

Infertile, mild learning difficulties

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17
Q

what are the clinical features of triple X syndrome

A

Normal fertility, mild learning difficulties

Normal physically

18
Q

what are the clinical features of XYY syndrome

A

Tall, fertile, minor behavioural problems

19
Q

what is 4p-syndrome

A

wolf hirschorn syndrome

20
Q

what are the symptoms of 4p syndrome

A 
Severe growth retardation 
Psychomotor delay and mental retardation
Dysgenesis of the corpus callosum 
Seizures
Renal hypoplasia 
Ventricular septal defect

Facial features (wide-set eyes, microcephaly)

21
Q

what is 5 p deletion syndrome also called

A

cri du chat syndrome

22
Q

what are the symptoms of cri du chat syndrome

A

name is French for “cry of the cat,“
The cry is caused by abnormal larynx development, which becomes normal within a few weeks of birth.

Low birth weight, 
may have respiratory problems,
Microcephaly,
Mental retardation, 
Facial features 
Normal life expectancy
23
Q

what is 7q11.2 sydnrome also called?

A

williams beuren syndrome

24
Q

what are the symptoms of williams beuren syndrome

A

mild mental retardation (some are normal);
Strengths in auditory memory and language, extreme weakness in 3D skills (writing, math);
Elastin artheriopahty (elastin gene is deleted), arteries is narrow;
distinctive facial features
Hypercalcemia
Overfriendliness, generalized anxiety, and attention deficit disorder

25
Q

what is 11 q syndrome also called

A

jacobsen syndrome

26
Q

what are the symptoms of jacobsen syndrome

A 
mild to moderate psychomotor retardation,
 trigonocephaly, 
facial dysmorphism, 
cardiac defects,
Thrombocytopenia
    (bleeding disorder)
27
Q

what are some of the symptoms of smith magenis syndrome

A

-moderate mental retardation
-an inversion of the circadian rhythm of melatonin : sleep disturbances
(sleep whole day, party all night)

self-injurious behavior: head banging; hand/nail biting; skin picking; pulling off fingernails and/or toenails “for fun and when bored”. Other behavioural disturbances

28
Q

what are the names for 22q11 deletion syndrome

A

velo-cardio facial syndrome and digeorge syndrome

29
Q

what are the symptoms of digeorge syndrome

A

a history of recurrent infection due to thymus agenesis or hypoplasia;
parathyroid gland hypoplasia (hypocalcemia)
heart defects
facial features

30
Q

what the defect of ATM

A

Failure to arrest cell division to allow for repair

31
Q

what is the defect for bloom syndrome

A

Defect of helicase that unwinds DNA

32
Q

what is the defect for fanconi anemia

A

Double strand break repair defect (13 genes)

33
Q

what is the defect for xeroderma pigmentosum

A

Defect of nucleotide excision repair

7 genes

34
Q

what are the symptoms for atm

A

extreme radiosensitivity, immunodeficiency, sterility, Lymphomas,
ATM +/- : breast cancer

35
Q

what are the symptoms for bloom syndrome

A

small body size, sunlight sensitivity, immunodeficiency, male infertility, Cancer death before 30

36
Q

what are the symptoms for fanconi anemia

A

extreme fatigue, frequent infections, acute myelogenous leukemia (AML) and at a very early age; other cancers are common

37
Q

what are the symptoms for xeroderma pigmentosum

A

Excessive dryness of skin ,
Severe sunburns, many freckles, The mean patient age of skin cancer is 8 years in patients with XP compared to 60 years in the healthy population

38
Q

what are the symptoms for nigmegen syndrome

A 
congenital microcephaly, 
mild dysmorphic facial appearance, 
growth retardation, 
immunodeficiency, 
high risk for lymphoid malignancy
39
Q

what is fetal alcohol syndrome’s relation to mental retardation

A

Leading known cause of preventable mental retardation

The majority of individuals with FAS do not have mental retardation

40
Q

what are some of the symptoms of fetal alcohol syndrome

A

Difficulty with time
Being where they should be on time
Problems managing money
Difficulty transferring learning to other situations
Difficulty determining what to do in a given situation

genetics concepts (13 decks)

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