El Final

Question 0

Monosomy X

Turner Syndrome

Answer 0

Female lacks an X chromosome

Chromosomal syndrome

Question 1

Trisomy 21 (Down Syndrome)

Answer 1

1/700 births (varies with maternal age)
Most common cause of ID
20% of all ID
Associated w/ hrt & gi atresias defects
At risk for hypothyroidism, leukemia, Alzeheimer's 
IQ 25-50
Chromosomal syndrome

Question 2

Klinefelter Syndrome

Answer 2

Extra X in males

Chromosomal syndrome

Question 3

Prader-Willi Syndrome

Answer 3

Deletion of paternal 15q

Contiguous Gene Deletion Syndrome

Question 4

Angelman syndrome

Answer 4

deletion of maternal 15q

Contiguous gene deletion

Question 5

William syndrome

Answer 5

Deletion of 7q

contiguous gene deletion

Question 6

Single gene syndromes

Answer 6

Sickle cell anemia
Marfan syndrome 
Duchenne muscular dystrophy
Archondroplasia 
Cystic fibrosis

Question 7

VACTERL association

Answer 7

Vertebral anomalies
Anal atresia
Cardiac defects
Tracheo
Esophageal fistula
Renal defects
Limb defects

Question 8

CHARGE association

Answer 8

Coloboma of the eye
Heart defect
Atresia choanae
Retarded growth/development
Genital hypoplasia
Ear anomalies

Question 9

Chromosomal syndromes

Answer 9

Trisomy 21
Monosomy X
Klinefelter Syndrome
Trisomy 18 (Edwards Syndrome)

Question 10

Contiguous Gene Deletion

Answer 10

Prader-Willi Syndrome
Angelman Syndrome
William Syndrome

Question 11

Cri-du-chat syndrome

Answer 11

Low birth weight; hypotonia, feeding problems/failure to thrive (FTT); low set ears; microcephaly; clumsiness and hyperactivity

Question 12

Prader-Willi syndrome

Answer 12

Hypotonia, global developmental delay; short stature and small hands/feet; respiratory and feeding problems; obesity, MR, scoliosis

Question 13

Angelman syndrome

Answer 13

Ataxia with jerky movements; seizures, severe learning disabilities, inappropriate laughter, wide smiling mouth

Question 14

William Syndrome

Answer 14

CV disease; elfin-like face; short stature; strong language skills but problems w/ visuospatial skills; GI problems; hypotonia, potential learning difficulties

Question 15

Single gene disorders

Answer 15

Neurofribromatosis type 1 (NF1)
Tuberous Sclerosis
Achondroplasia
Marian Syndrome
Osteogenesis Imperfecta (OI)

Question 16

Neurofibromatosis type 1 (NF1)

Aka Von recklinghausens’ disease

Answer 16

Cafe au lait spots (dark brown spots)
Crowe's signs (axillary freckling) 
Neurofibromas 
Bone problems, short stature, large head
Intellectual problems, 50% have LD

Question 17

Tuberous Sclerosis

Answer 17

1:6K-1:9K
Autosomal dominant with high spontaneous rate
Angiofibromas, hypopigmented macules, MR, seizures, and psychiatric problems

Question 18

Achondroplasia

Answer 18

Most common disproportionate short stature disorder 1:25K
Autosomal dominant, rare mutation
4'-4'6" large heads, short limbs
IQ is norm, problems with fine motor
Bow legs
Spinal stenosis, can be obese
No sports

Question 19

Marfan syndrome

Answer 19

Autosomal dominant
Causes heart, skeletal & eye problems
Tall and thin, long limbs
Chest wall deformities, flat feet, curved spine, loose joints

Question 20

Osteogenesis Imperfecta (OI)

Answer 20

Fragile bone secondary to abnormal Type 2 collagen
Frctrs, short stature and bony deformities
Bluish tinge to sclera, hearing loss
IQ is norm; motor delays

Question 21

Phenylketonuria (PKU)

Answer 21

1:35K births
High phenylalanine in blood
More common in Caucasian
IQ <40, eczema, hypopigmentatiom, autism, seizures; low protein diets, near vegetarian, low one diet for life

Question 22

Galactosemia

Answer 22

1:65K births
Defect in breakdown of sugar in milk
Results in high galactose in blood
Signs; vomiting, diarrhea, liver disease w/ jaundice; lead to liver disease, cataracts, dev delays, FTT, growth retardation, cognitive deficits and death. Hard to fix

Question 23

X-linked disorders

Answer 23

Duchenne muscular dystrophy

Lesch-Nyham syndrome

Question 24

Duchenne muscular dystrophy

Answer 24

Most common X-linked 
1:3.5K live male births
Mutation of dystrophin gene
Proximal muscle weakness
From late teens to late 20s

Question 25

Lesch-Nyhan syndrome

Answer 25

Involves purine metabolism
Gross motor delay btwn 3-6 mos with initial hypotonia, but later ataxia, athetosis and spasticity; growth retardation,self-injurious behavior, dysarthria, moderate cognitive impairment

Question 26

X-Linked Dominant

Answer 26

Fragile X syndrome

Rett syndrome

Question 27

Fragile X syndrome

Answer 27

Most common inherited cause of ID
1:2K male live births
Characteristics: long face and body
ADD or autistic behavior
Double jointedness
Flat feet
Ear infections
Circulatory system 
IQ 30-55
Females carriers have Ed barriers
Norm lifespan

Question 28

fragile x-associated tremor/ataxia syndrome (FXTAS)

Answer 28

Severe tremor, difficulty w/ walking and balance, appears to specifically affect some older permutation carriers, generally grandfathers of children with fragile X.
50-80yo
Intention tremors, balance problems, numbness, mood instability, short-term memory

Question 29

Rett Syndrome

Answer 29

Progressive neuro disorder in females
They are norm up to 12-18 mos
Regress in dev skills; eventual microcephaly, seizures; loss hand skills; gait trunk ataxia; tremors, bruxism (teeth grinding), fits of screening and crying) severe language and Cogn impairment