Genetics

Question 1

Low set ears, hypertelorism, short/webbed neck, short stature, coarse/curly hair. What is the #1 cardiac defect? What other organs involved?

Answer 1

Noonan syndrome. Pulmonary valve stenosis. Also have SN hearing loss, vision problems, intellectual disability, and cryptorchidism.

Question 2

Karyotype in Noonan syndrome?

Answer 2

Normal. Appears like Turner’s syndrome but occurs in females AND males.

Question 3

Premature closure of cranial sutures, choanal atresia, syndactyly

Answer 3

Apert Syndrome

Question 4

Craniosynostosis, high prominent forehead, shallow orbits with proptosis, beak nose

Answer 4

Crouzon syndrome

Question 5

Socially awkward, normal intelligence, infertile with small testes, tall for age, gynecomastia. Treatment?

Answer 5

Klinefelter. Tx with testosterone

Question 6

Flat nasal bridge, high arched eyebrows, severe DD, cleft lip and palate, FTT.

Answer 6

Wolf-Hishchorn Syndrome

Question 7

Stellate irides, bitemporal narrowing, elfin face (thick lips, flat philtrum), very social personality. What heart defect is found? Dx?

Answer 7

William’s Syndrome. Supravalvular aortic stenosis. This is microdeletion- dx with FISH or microarray

Question 8

Cleft palate, hypocalcemia, bulbous nose, cardiac abnormalities. First test to order for dx?

Answer 8

FISH

Question 9

Unibrow (synophyrs), hirsutism, oligodactyly, long disordered lashes

Answer 9

Cornelia de Lange Syndrome

Question 10

Down-slanting palpebral fissures, malar hypoplasia, microtia, lower eyelid coloboma. Inheritance?

Answer 10

Treacher Collins. Autosomal dominant.

Question 11

Risk of down syndrome in 22 yo? 40 yo?

Answer 11

1/1500 in 22 yo; 1/90 in a 40 yo

Question 12

Punched out scalp lesions, holoprosencephaly, polydactyly, cleft lip and palate

Answer 12

Trisomy 13

Question 13

Rocker bottom feet, clenched fist, hypoplastic nails, prominent occiput, horseshoe kidney

Answer 13

Trisomy 18

Question 14

ASD, 3-jointed thumb, upper extremity defects

Answer 14

Holt-Oram syndrome (Heart-Arm)

Question 15

Self-mutilation, choreiform movements, intellectual disability. Elevated uric acid levels

Answer 15

Lesch Nyhan Syndrome

Question 16

Precocious puberty, cafe au lair spots, fibrous dysplasia

Answer 16

McCune Albright Syndrome

Question 17

Most common form of INHERITED intellectual disability in boys

Answer 17

Fragile X Syndrome

Question 18

Most common cause of GENETIC disability

Answer 18

Down syndrome

Question 19

Floppy baby, almond shaped eyes, ID, talkative, obese with small testicles. What chromosomal abnormality?

Answer 19

Prader-willi syndrome. Results from deletion of PATERNAL chromosome 15, or MATERNAL disomy

Question 20

Severe DD, frequent laughter outbursts, seizures/ataxia. What chromosomal abnormality?

Answer 20

Angelman syndrome. MATERNAL deletion on chromosome 15, or PATERNAL disomy.

Question 21

Chronic granulomatous disease. Inheritance?

Answer 21

x-linked recessive. ONLY males affected

Question 22

Wiskott aldrich syndrome inheritance?

Answer 22

x-linked recessive. ONLY males affected

Question 23

Absence of corpus collosum, macrocephaly, seizures, ocular abnormalities

Answer 23

Aicardi syndrome

Question 24

Severe hypotonia, droopy mouth, microphallus, fusion of 2nd and 3rd toes

Answer 24

Smith-Lemli-Opitz Syndrome. Elevated 7-dehydrocholesterol.

Question 25

CHARGE syndrome stands for?

Answer 25

Coloboma, Heart disease, Atresia (choanal), Retarded growth, GU anomalies (genital hypoplasia), Ear anomalies (hearing loss)

Question 26

VACTERL stands for? What finding in newborn is a clue?

Answer 26

Vertebral defects, Anal atresia, Cardiac (VSD), TE fistula, Radial hypoplasia/Renal anomalies, Limb anomalies. Presents with single umbilical artery

Question 27

Kids with potter sequence ultimately die of what?

Answer 27

Pulmonary complications

Question 28

Broad thumb + cryptorchidism

Answer 28

Rubinstein-Taybi Syndrome

Question 29

Valgus vs. varus

Answer 29

ValGUM (think gum sticking knees together), VAIRus is opposite (think air between the knees)

Question 30

Coarse facies, thick skull, severe ID, corneal clouding, HSM, progressive deafness. Inheritance?

Answer 30

Hurler's syndrome. Autosomal recessive.

Question 31

Wide spaced teeth, friendly personality and HYPERcalcemia

Answer 31

William's syndrome

Question 32

Micrognathia, cleft palate, glossoptosis

Answer 32

Pierre-Robin Sequence

Question 33

Glossoptosis, hearing loss, cleft palate, micrognathia

Answer 33

Stickler Syndrome

Question 34

Mucosal pigmentation of lips and gums, hamartomatous polyps of intestine. Inheritance? Tx?

Answer 34

Peutz-Jeghers syndrome. Autosomal dominant. Tx polyp resection

Question 35

Port wine stain, DD, seizures, hemiplegia. What eye abnormality at risk for?

Answer 35

Sturge Weber syndrome. Glaucoma

Question 36

Neonatal blistering skin rash that gives way to swirling pattern of skin hyper pigmentation. Mother with similar story. Inheritance?

Answer 36

Incontinentia pigmenti. X-linked dominant (lethal in males)

Question 37

Short limbs, mid face hypoplasia, hyper extensible joints, genu varum. What gene?

Answer 37

Achondroplasia. Fibroblast growth factor gene.

Question 38

Gene abnormality of COL1A1 and COL1A2

Answer 38

Osteogenesis imperfecta

Question 39

Deletion of 11p

Answer 39

WAGR syndrom

Question 40

Deletion of 7q11

Answer 40

Williams syndrome

Question 41

14 yo boy with progressive weakness of upper extremities, contractures, heart abnormalities

Answer 41

Emery-Driefuss muscular dystrophy

Question 42

Rash with telangiectases and photosensitivity, severe cheilitis, growth deficiency associated with primary hypogonadism, and increased susceptibility to neoplasms

Answer 42

Bloom's Syndrome