Brainscape's Knowledge GenomeTM

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


See full index

Laughing Your Way > Genetics > Flashcards

Genetics Flashcards

1
Q

Chorionic villus sampling

A

12 weeks

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

Amniocentesis

A

16 weeks

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

Genetic disorders caused by mutation in one gene

A

Monogenic inheritance

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

Genetic disorders caused by mutation in multiple genes

A

Multifactorial inheritance

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

Genetic disorders caused by combination of gene mutations and environmental factors

A

Epigenetics

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

Chances of having a child with X-linked recessive disorder if mother is carrier

A

25% disease

25% carriers
50% normal

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

Variable expressivity
Possible reduced penetrate
High risk for spontaneous mutation with no prior family history
Only way a disease can be transmitted from father to son

A

Autosomal dominant

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

Test necessary for imprinting disorders

(ie Prader-willi, angelman, beckwith-wiedeman, Russell-silver)

A

Methylation test

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

Short stature
Broad webbed neck
Bicuspid valve
Coarctation of aorta
Hypothyroidism
Gonadal dysgenesis
diffusely enlarged nodular thyroid gland

A

Turner syndrome

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

Screening for most common co-morbidities with Turner

A

ECHO
4 extremity BP
Renal US
TSH
Growth velocity

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

Most common chromosomal defect discovered in spontaneous abortions

A

Turner syndrome

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

Definitive diagnostic test for Turner syndrome

A

Karyotype

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

Pectus excavatum
Webbed neck
Low set ears
Pulmonary stenosis
Normal karyotype
Bleeding diatheses

A

Noonan syndrome

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

Major criteria for Marfan

A

(Must meet more than 2)

Progressive dilatation or dissection or ascending aorta
Lumbosacral Dural ecstasia
Ectopia lentis (upward slanting eyes)
Four skeletal manifestations
Family or generic history

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

Mutation in Marfan

A

Chromosome 15
Fibrillin gene

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

Asymmetric pectus carinatum

A

Marfan

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

Downward displaced eyes
Low IQ
Thrombosis

A

Homocystinuria

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

Autosomal recessive
Cholesterol synthesis defect (low total cholesterol)
SGA, intellectual disability
Syndactyly of 2nd and 3rd toes

A

Smith-Lemli-Opitz Syndrome (SLOS)
Deficiency of 7-dehydrocholestorol

Tx: cholesterol supplements
Poor prognosis - most dye in early childhood

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

Most common abnormality seen in Down syndrome

A

Hypotonia

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

Low set ears
Epicanthal folds
Upslanted palpebral fissures
Brushfield spots (speckled iris)
Single transverse palmar creases

A

Down syndrome

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

Complications of Down syndrome

A

Leukemia
Duodenal atresia
Endocardial cushion defect
Atlantoaxial instability

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

Diagnostic evaluation for Down syndrome

A

FISH

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

Clenched fist
Rocker bottom feet
Overlapping fingers
Hypoplastic nails
Prominent occiput,Microcephaly
Horseshoe kidneys

A

Trisomy 18 (Edward syndrome)

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

Bad Brain
Low set ears
Polydactyly
Bicornuate uterus
Cleft lip/palate
Cystic kidneys
Rocker bottom feet
Cutis aplasia (pathognomonic)

A

Trisomy 13

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

Tall
Small testes
Cryptorchidism
Gynecomastia

A

Klinefelter syndrome

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

Diagnostic test and management for Klinefelter syndrome

A

Chromosome analysis

Testosterone supplementation

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

Central hypogonadotropic hypogonadism
Anosmia
Tall/thin
Small testes/cryptorchidism
Cleft lip/palate
Mirror movements

A

Kallman syndrome

Mutation of the ANOS1 gene at Xp22.3

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

Neonatal hypotonia
FTT as infant
Voracious appetite
Obesity
Intellectual disability
OCD
small hands/feet
Almond-shaped eyes

A

Prader-will syndrome

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

Diagnostic test and management for Prader-Willi syndrome

A

Methylation test
15q11-13 deletion

Growth hormone
Nutritional management

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

Big smile
Intellectual disability
Ataxia/seizures
Laughter/excitability
Feeding issues

A

Angelman syndrome

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

Diagnostic test for Angelman syndrome

A

Methylation test
15q11-13 deletion

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

Macroglossia
Macrosomia
Hypoglycemia
Hemihypertrophy
Renal anomolies
Hypospadias
Omphalocele
Abdominal mass

A

Beckwith wiedeman syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Most common imprinting disorder

A

Beckwith wiedeman syndrome

34
Q

Diagnostic test and management for beckwith wiedeman syndrome

A

Methylation test
11p15.5 alteration

Predisposed to malignancy
AFP every 6-12 weeks until 4yo
Abdominal US every 3 mo until 8yo

35
Q

Tumors children with beckwith wiedeman syndrome are at risk for

A

Rahbdomyosarcoma
Wilm’s (nephroblastoma)
Hepatoblastoma
Neuroblastoma

36
Q

Elfin facies
Prominent philtrum
Big lips/mouth
Cocktail party personality
Stellate irises

A

Williams syndrome

37
Q

Complications of Williams syndrome

A

Hypercalcemia
Supravalvular aortic stenosis

38
Q

Conotruncal defects (Tetrology of Fallot)
Abnormal Davies
Thymic aplasia/immunodeficiency
Cleft palate/cryptorchidism
Hypoparathyroidism

A

DiGeorge syndrome
22q11 deletion syndrome
Velocardialfacial syndrome

39
Q

Diagnostic test for DiGeorge syndrome

A

Chromosomal microarray (CMA)

40
Q

Coloboma/cognitive deficits
Heart defects
Atresia/stenosis (choanal)
Retarded growth/development
GU abnormalities
Ear anomalies (hearing loss)

A

CHARGE syndrome

Autosomal dominant in CHD7 gene

41
Q

Broad thumb
Cryptorchidism

A

Rubinstein-Taybi syndrome

42
Q

Bilateral coronal crani pay ptosis
Significant proptosis
Wide spaced eyes
Wide thumbs

A

Pfeiffer syndrome

43
Q

Similar head to Pfeiffer
No hand issues

A

Crouzon syndrome

44
Q

Craniosynostosis
Mitten hands +/- feet

A

Apert syndrome

45
Q

Face elongated
Repeat CGG
Autism, ADHD
Giant genitals (macroorchidism)
IQ Lower
Large hands/feet
Ears big
X-linked dominant

A

Fragile X syndrome

46
Q

Diagnostic test for Fragile X

A

DNA testing
Triplet CGG expansion on FMR1 gene

47
Q

Most common single-gene cause of Autism spectrum disorder

A

Fragile X

48
Q

Most common cause of X-linked intellectual disability

A

Fragile X

49
Q

Regression of developmental milestones
Autistic-like behavior
Wringing hands
X-linked dominant
Only on Females (males don’t survive pregnancy)

A

Rhett syndrome

50
Q

Most common preventable teratogenic cause of intellectual disability

A

Fetal alcohol syndrome

51
Q

Flat Philtrum
Thin vermilion border of upper lip
Midface hypoplasia
Short palpebral fissures
Deficient brain growth
Growth retardation
VSD

A

Fetal alcohol syndrome

52
Q

Low birth weight/IUGR
Higher miscarriage rates
Placental abruption
Placenta previa
Prematurity
Cleft lip/palate

A

Tobacco exposure

53
Q

Complications of prenatal tobacco exposure

A

Asthma
Otitis media
Wheezing
SIDS
Abnormal neurobehavior

54
Q

IUGR
Broad nose bridge
Fingernail hypoplasia
Neural tube defect
Anticonvulsants

A

Valproic acid
Carbamazepine

55
Q

Cleft palate
Postnatal bleeding
Microcephaly
Hypoplastic nails
Hypertelorism
Short, upturned nose
AED

A

Fetal hydantoin syndrome
(phenytoin)

56
Q

vertebral defects/tethered cord
Anal atresia
Cardiac defects
TE fistula
Renal abnormalities
Limb abnormalities

Single umbilical artery

A

VACTER-L

57
Q

Parallelogram head shape

A

Position plagiocephaly

Ipsilateral ear displacement
Ipsilateral frontal bossing

Normal sutures on CT Head
Most likely from lying on back
Will self-improve

58
Q

Trapezoidal head shape

A

Unilateral lamboid synostosis

Ipsilateral ear displacement
Contralateral frontal bossing

59
Q

Dolichocephaly
Scaphocephaly

A

Saggital synostosis

60
Q

Brachycephaly

(Crouzon, Pfeiffer syndrome)

A

Bilateral coronal sutures

61
Q

Trigonocephaly

A

Metopic sutures

62
Q

Cloverleaf skull

(Apert)

A

Multiple suture synostosis

63
Q

Cleft palate
Micrognathia
Glossoptosis (tongue sticks out)
Extremity/vertebral anomalies
Language/developmental delay

A

Pierre Robin syndrome

64
Q

Complication of Pierre Robin

A

Cor pulmonale sue to upper airway obstruction caused by glossoptosis

65
Q

Renal agenesis
Hypoplastic lungs
Limb malformations

A

Oligohydramnios sequence
(Potter sybdrome)

66
Q

Complication of Potter syndrome

A

Die of pulmonary complications

67
Q

Triangle face
Growth retardation

A

Russell Silver syndrome

68
Q

Lack of abdominal muscle development
Bladder outlet obstruction
Oligohydramnios
Pulmonary hypoplasia
Undescended testes

A

Prune belly syndrome

69
Q

Conductive hearing loss
Small jaw
Ear abnormalities
Lower eyelid abnormalities
Midface and mandibular dysmorphology

A

Treacher Collins syndrome
(Mandibulofacial dystosis)

70
Q

Macrocephaly
Frontal bossing
Genu Verum (bowlegs)
Short extremities (rhizomelic shortening)

A

Achondroplasia

Autosomal dominant

71
Q

Complications of achondroplasia

A

Cervicomedullary junction compression (most common cause of death in children) due to small foremen magnum

Sleep apnea
Otitis
Hearing loss

72
Q

IUGR
Limb anomalies (short fingers, absent UE)
Synophrys
Arched eyebrows
Small upturned nose
Microcephaly
Hirsutism
Oligodactyly

A

Cornelia de Lange

73
Q

Paucity of intrahepatic bile ducts (confirmed with liver biopsy)
Butterfly vertebrae
Cholestatic jaundice

A

Alagille syndrome

74
Q

Clinical criteria for neurofibromatosis 1
(Von recklinghausen disease, ch 17)

A

> 6 cafe au lait spots (> 5mm in diameter in prepubertal and > 15 mm in post pubertal)

Axillary or inguinal freckles

> 2 typical neurofibromas or > 1 plexiform neurofibroma

Optic nerve glioma

> 2 iris hamartomas (lisch nodules)

Sphenoid dysplasia
Tibial pseudoarthrosis

1st degree relative with NF1

75
Q

Congenital sensorineural hearing loss
Heterochromia
Hair hypopigmentation (white forelock)
Displacement of medial canthi
Cutaneous depigmentation

A

Waardenburg syndrome

76
Q

Wilms tumor
Aniridia
GU abnormalities
Reduced intellectual abilities

A

WAGR

77
Q

Multilocular cystic mass in nuchal region
Aneuoloidy

A

Cystic hygroma

78
Q

Benign proliferating bone disease
Infants
Extreme irritability
Fever
Soft tissue swelling
Cortical hyperostosis

A

Caffey disease

79
Q

Keyhole like or notch like defect affecting iris, ciliary body, retina, and/or optic nerve
Microphthalmia
Nystagmus

A

Coloboma

80
Q

Sudden death with growth hormone administration

A

Prader-Willi syndrome

Laughing Your Way (34 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions