Gentics

Question 1

What are the x linked recessive disorders

Answer 1

Hemophilia A and B
Glucose 6 PD
Chronic granulomatous disease 
Duchenne muscular dystrophy 
Nephrogenic DI
Retinitis pigmentosa 
Androgen insensitivity 
Wiskott Aldrich syndrome

Question 2

Characteristics of autosomal dominant disorders

Answer 2

Variable expressivity
Possible reduced penetrance
High risk for spontaneous mutation with no prior family history

Question 3

Autosomal dominant disorders

Answer 3

TAR MAN

Tuberous sclerosis
Achondroplasia
Retinoblastoma

Marfans
Apert, all porphyrias, sometimes alport
Nail patella syndrome and neurofibromatosis

Question 4

In an autosomal recessive condition what percent of unaffected offspring are carriers

Answer 4

2/3

Question 5

Autosomal recessive disorders

Answer 5

Aunt Reese is a PHAT KAW full of GAS

PKU
Hurler syndrome
Ataxia telangiectasia
Tay Sachs disease

Kartagener syndrome
Adrenogenital syndrome and Alpers
Wilson disease

Galactosemia
Alpha 1 antitrypsin
Sickle cell and thalassemia

Question 6

Heart defect with Turner syndrome

Answer 6

Bicuspid aortic valve or coarctation of the aorta

Question 7

Heart defect with noonan syndrome

Answer 7

Pulmonary valve stenosis *

Hypertrophic cardiomyopathy

Question 8

Features of noonan syndrome

Answer 8

Pectus excavatum, webbed neck, low set ears, pulmonic stenosis

Question 9

List the major criteria for marfan

Answer 9

Dilation or dissection of the ad ending aorta/aortic root

Lumbosacral Dural ectasia

Ectopia lentis (upward and temporal displacement of the lens)

Four skeletal manifestations

Family or genetic Hx

Question 10

What are the skeletal abnormalities in Marfans

Answer 10

Tall stature
High arched palate
Dental crowding 
Hyperextensible joints 
Pectus abnormalities 
Arachnodactyly 
Disproportionately long extremities compared to trunk

Question 11

Trisomy 13 (Edward syndrome) presentation

Answer 11

Ed 18 year old teen at a rock concert with CLENCHED fist (overlapping 2nd and 5th fingers) and rocker bottom feet so he wears horse shoes (horseshoe kidney) bc they are the only ones that fit. Little face and big head.

Question 12

How does trisomy 13 (patau syndrome present)

Answer 12

13 ugly BALD DUCTling

B- bald head (holoprosencephaly, microcephaly, punched out scalp lesions- Curtis aplasia)
eArs low set
Luekocytes - nuclear projections
D-igits (polydactaly)

D-igits (polydactyl)
Uterus (bicornuate and hypoplastic ovaries)
Cleft lip and palate
Kidneys cystic

Question 13

Presentation of prader willi syndrome

Answer 13

Neonatal hypotonia, failure to thrive as an infant with voracious appetite starting at about age 2-3 and leading to obesity, intellectual disability, small testicles, small hands and feet

Received 2 of mom’s copy, dads is absent

Question 14

Features of beckwidth wiedemann syndrome

Answer 14

Hypospadias
Omphalocele
Macroglossia
Macrosomia
Hypoglycemia
Hemihyperthrophy

Question 15

Lab abnormality and cardiac defect with Williams syndrome

Answer 15

Hypercalcemia

Supra valvular aortic stenosis

Question 16

Maternal smoking can affect the fetus in which ways

Answer 16

Low birth weight, higher miscarriage, placental abruption, placenta previa, IUGR, prematurity

Associated with cleft lip and palate, asthma, wheezing and other respiratory ailments

Question 17

How does valproic acid use during pregnancy affect the fetus

Answer 17

Neural tube defect and facial deformities

Question 18

How does phenytoin exposure during pregnancy affect the fetus

Answer 18

Finger stiffness and severe nail hypoplasia

Question 19

What is CHARGE association

Answer 19

Coloboma
Heart disease 
Atresia 
Retarded growth and development (below normal intelligence) 
GU abnormalities 
Ear anomalies (hearing loss)

Question 20

VACTER-L

Answer 20

Vertebral defects
Anal atresia 
Cardiac defects (VSD) 
TE fístula 
Radial hypoplasia and renal abnormalities 
Limb abnormalities 

May present as single umbilical artery

3/5 required for diagnosis

*normal intelligence

Question 21

What is rubinstein Taybi syndrome

Answer 21

Broad thumb (thumbs and toes) 
Cryptorchidism

Question 22

Russell silver syndrome

Answer 22

Triangle face and growth retardation

Question 23

Treacher Collins syndrome

Answer 23

Conductive hearing loss, small jaw, ear abnormalities, lower eyelid abnormalities

Normal intelligence

Question 24

Most common cause of death in children with achondroplasia

Answer 24

Cervicomedullary junction compression

Question 25

Pierre robin sequence

Answer 25

Small chin, cleft palate and micrognathia

Glossoptosis due to small chin

Extremity abnormalities - syndactyly, clinodactyly, hip and knee anomalies, kyphosis, scoliosis

CNS - language delay, seizure, developmental delay

Upper airway obstruction causes by glossoptosis can lead to cor pulmonale

Question 26

Treacher Collins syndrome

Answer 26

Hypoplasia of the zygomatic bones and mandible, downslanting palpebral fissures, micrognathia, reteognathia, external ear anomalies, coloboma of the lower eyelid, absent lower lashes

Intelligence and fertility are normal!