Genetics Flashcards

1
Q

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

A

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

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2
Q

Karyotype in Noonan syndrome?

A

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

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3
Q

Premature closure of cranial sutures, choanal atresia, syndactyly

A

Apert Syndrome

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4
Q

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

A

Crouzon syndrome

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5
Q

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

A

Klinefelter. Tx with testosterone

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6
Q

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

A

Wolf-Hishchorn Syndrome

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7
Q

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

A

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

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8
Q

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

A

FISH

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9
Q

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

A

Cornelia de Lange Syndrome

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10
Q

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

A

Treacher Collins. Autosomal dominant.

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11
Q

Risk of down syndrome in 22 yo? 40 yo?

A

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

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12
Q

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

A

Trisomy 13

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13
Q

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

A

Trisomy 18

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14
Q

ASD, 3-jointed thumb, upper extremity defects

A

Holt-Oram syndrome (Heart-Arm)

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15
Q

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

A

Lesch Nyhan Syndrome

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16
Q

Precocious puberty, cafe au lair spots, fibrous dysplasia

A

McCune Albright Syndrome

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17
Q

Most common form of INHERITED intellectual disability in boys

A

Fragile X Syndrome

18
Q

Most common cause of GENETIC disability

A

Down syndrome

19
Q

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

A

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

20
Q

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

A

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

21
Q

Chronic granulomatous disease. Inheritance?

A

x-linked recessive. ONLY males affected

22
Q

Wiskott aldrich syndrome inheritance?

A

x-linked recessive. ONLY males affected

23
Q

Absence of corpus collosum, macrocephaly, seizures, ocular abnormalities

A

Aicardi syndrome

24
Q

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

A

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

25
CHARGE syndrome stands for?
Coloboma, Heart disease, Atresia (choanal), Retarded growth, GU anomalies (genital hypoplasia), Ear anomalies (hearing loss)
26
VACTERL stands for? What finding in newborn is a clue?
Vertebral defects, Anal atresia, Cardiac (VSD), TE fistula, Radial hypoplasia/Renal anomalies, Limb anomalies. Presents with single umbilical artery
27
Kids with potter sequence ultimately die of what?
Pulmonary complications
28
Broad thumb + cryptorchidism
Rubinstein-Taybi Syndrome
29
Valgus vs. varus
ValGUM (think gum sticking knees together), VAIRus is opposite (think air between the knees)
30
Coarse facies, thick skull, severe ID, corneal clouding, HSM, progressive deafness. Inheritance?
Hurler's syndrome. Autosomal recessive.
31
Wide spaced teeth, friendly personality and HYPERcalcemia
William's syndrome
32
Micrognathia, cleft palate, glossoptosis
Pierre-Robin Sequence
33
Glossoptosis, hearing loss, cleft palate, micrognathia
Stickler Syndrome
34
Mucosal pigmentation of lips and gums, hamartomatous polyps of intestine. Inheritance? Tx?
Peutz-Jeghers syndrome. Autosomal dominant. Tx polyp resection
35
Port wine stain, DD, seizures, hemiplegia. What eye abnormality at risk for?
Sturge Weber syndrome. Glaucoma
36
Neonatal blistering skin rash that gives way to swirling pattern of skin hyper pigmentation. Mother with similar story. Inheritance?
Incontinentia pigmenti. X-linked dominant (lethal in males)
37
Short limbs, mid face hypoplasia, hyper extensible joints, genu varum. What gene?
Achondroplasia. Fibroblast growth factor gene.
38
Gene abnormality of COL1A1 and COL1A2
Osteogenesis imperfecta
39
Deletion of 11p
WAGR syndrom
40
Deletion of 7q11
Williams syndrome
41
14 yo boy with progressive weakness of upper extremities, contractures, heart abnormalities
Emery-Driefuss muscular dystrophy
42
Rash with telangiectases and photosensitivity, severe cheilitis, growth deficiency associated with primary hypogonadism, and increased susceptibility to neoplasms
Bloom's Syndrome