Brainscape's Knowledge GenomeTM

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


See full index

AKP > Genetics and Dysmorphology > Flashcards

Genetics and Dysmorphology Flashcards

1
Q

Name any 5 genetic conditions inherited in an autosomal dominant fashion

A

Achondroplasia
Hereditary elliptocytosis
Hereditory spherocytosis
Huntington’s disease
Marfans Syndrome
Myotonic Dystrophy
NF1
NF2
Tuberous Sclerosis
Noonan Syndrome
Von Willebrands Disease

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

Name any 5 genetic conditions inherited in an autosmal recessive fashion

A

alpha-1-antitrypsin deficiency
ataxia telangectasia
beta thalassaemia
cystic fibrosis
fanconi anaemia
sickle cell
galactosaemia
glycogen storage disorders
homocystinuria

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

Name any 5 genetic conditions inherited in an x-linked fashion (dominant or recessive)

A

Haemophilia A and B
Wiskot-Aldritch Disease
Duchenne muscular dystrophy
Becker muscular dystrophy
Glucose-6-phosphate dehydrogenase deficiency
Incontinentia pigmenti
Hypohydrotic ectodermal dysplasia
Rett Syndrome

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

How many conditions conditions are screened for in the newborn screening test and what are they?

A

9
sickle cell disease
cystic fibrosis
hypothyroidism
phenylketonuria
medium-chain acyl CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease
isovaleric acidaemia
glutaric aciduria type 1
homocystinuria

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

What are the classical phenotypic features of Patau syndrome and from what genetic abnormality does it arise?

A

Trisomy 13
Cleft lip + palate, polydactyly
<3 = ASD+ VSD
I = coloboma ,micropthalmia
Sig CNS problems holoprosencephal and menigomyeloceole
Death in 12 months

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

What are the classical phenotypic features of Edwards syndrome and from what genetic abnormality does it arise?

A

Trisomy 17
Folded over fingers at birth CLASSIC
<3 = ASD+ VSD
I = coloboma ,micropthalmia
Sig brain problems
Death in 12 months

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

What are the classical phenotypic features of Downs syndrome and from what genetic abnormality does it arise?

A

Trisomy 21
Single palmar creases, midface hypoplasia, intellectual disablilty
<3= AVSD, VSD, ASD
I= Cataracts, brusfield spots, epicanthal folds
Hypotonia, hypermobility

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

What are the classical phenotypic features of Turners syndrome and from what genetic abnormality does it arise?

A

45 X0 OR 45 X mosaicism
Short GIRL with webbed neck, wide spaced nipples, low hairline
<3 =Biscuspid aortic valve, coarctation of aorta
I- NAD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the classical phenotypic features of Klinfelters syndrome and from what genetic abnormality does it arise?

A

47 XXY
Abiguous genitalia
Small/ absent testes, Micropenis/ hypospadias, gynaecomastia
Some have neurodevelopmental delay

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

What are the classical phenotypic features of Di George Syndrome and from what genetic abnormality does it arise?

A

22q11.2 deletion
Big forehead, widely-spaced eyes, low set ears.
I= epicanthal folds, downslanting palpebral fissures
<3= Truncus arteriosus, tetralogy of fallot, VSD, ASD
Cleft lip and palate
hypoplastic thymus- therefore leucopenia
hypoplastic parathyroid - therefore hypocalcaemia

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

What are the classical phenotypic features of Williams Syndrome and from what genetic abnormality does it arise?

A

A.D. 7q11.23 deletion.
Short. Broad foreahead, small nose, long filtrum, wide mouth and widely spaced teeth.
<3= supravalvular aortic stenosis
Hypercalcaemia
renal artery stenois + hypothyroidism
+++ sociable

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

What are the classical phenotypic features of Prader-Willi Syndrome and from what genetic abnormality does it arise?

A

Absence of paternal copy of 15q OR maternal disomy of same
Reduce foetal movement, polyhydramnios, weak cry, hypotonia, poor feed.
almond shaped eyes, downturned mouth, thin upper lip
Short (growth hormone issue), obesity > 2 years,

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

What are the classical phenotypic features of Angleman Syndrome and from what genetic abnormality does it arise?

A

Absence of maternal copy of 15q OR paternal disomy of same.
Symptoms appear > 6 -12 month
Stiff, wide based gait, wide mouth
Often smiling, laughing, hand-clapping
Sig. developmental delay -> microcephaly

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

What are the classical phenotypic features of Peutz-Jeghers Syndrome and from what genetic abnormality does it arise?

A

A.D. mutation STK11 q9
Mucocutaneous pigmentation of lips
multiple pre-malignant polyps in gastrointestinal tract- may undergo malignant change.

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

What are the classical phenotypic features of Beckwith-Widemann Syndrome and from what genetic abnormality does it arise?

A

Imprinted gene abnormality q11
Macrosomia
Macroglossia, hemi-hypertrophy, crease in pinna of ear.
Risk hyperinsulinism due to pancreatic hyperplasia
Increased risk nephroblastoma

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

What are the classical phenotypic features of Silver Russel Syndrome and from what genetic abnormality does it arise?

A

Loss of imprinting at 11p15 (60% of patients) and
maternal uniparental disomy for Chromosome 7
Macroglossia, triangular face, micrognathia
Severe pre and postnatal growth restiction
Feeding and swallowing difficulties Risk hypoglycaemia

17
Q

What are the classical phenotypic features of Noonan Syndrome and from what genetic abnormality does it arise?

A

A.D. 50 % new mutations
Short, broad forehead, low-set ears.
I= epicanthal folds, downward slanting eyes
<3 = Sub valvular pulmonary stenosis
Sometimes coagulopathy

18
Q

What are the classical phenotypic features of Fragile X Syndrome and from what genetic abnormality does it arise?

A

Mutation FMR1, X-linked.
Long face, long ears
Neurodevelopmental issues
Machroorchidism on puberty

19
Q

What are the classical phenotypic features of Rett Syndrome and from what genetic abnormality does it arise?

A

Usually sporadic. MECP2 gener on x-chromosome
Normal development initially, then at 12-18 months microcephaly, developmenal regression, seizures

20
Q

What are the classical phenotypic features of Achondroplasia and from what genetic abnormality does it arise?

A

A.D.
Short, proximal long bone shortening
Macrocephaly
Risk of c-spine compression

21
Q

What are the classical phenotypic features of Albright’s hereditary Osteodystrophy AKA Pseudohypoparathyroidism type 1a and from what genetic abnormality does it arise?

A

A.D.
Short stature. Shortened 4th +5th metacarpals. Rounded face. Learning disability
hypocalcaemia, hypophosphataemia, elevated PTH

22
Q

What are the classical phenotypic features of Homocystinuria and from what genetic abnormality does it arise?

A

A.R. mutation q21
Tall, archynodactyly, pectus deformitiy, high arched palate
<3 = Aortic and mitral valve regurgitation. inc risk thrombosis
I = down and out lens dislocation
learning diability

23
Q

What are the classical phenotypic features of Marfan’s Syndrome and from what genetic abnormality does it arise?

A

A.D. FBN1 q15
Tall, archynodactyly, pectus deformitiy, high arched palate
<3 = Dilated aortic root, risk of dissection, aortic and mitral regurg.
I = Up and in lens dislocation
NO learning disability

AKP (25 decks)

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