Genetic deletion syndromes

Question 2

Angelman syndrome

Answer 2

Severe MR, developmental delay, large mouth, prognathia, ataxia, seizures DiGeorge syndrome

Question 3

DiGeorge syndrome

Answer 3

Characteristic facies, cleft palate, heart defect, hypoplasia of the thymus and parathyroids, severe hypocalcemia, seizures

Question 4

Ichthyosis

Answer 4

Scaly skin, short stature, hypogonadism, MR

Question 5

Kallmann syndrome

Answer 5

Hypogonadism, inability to smell

Question 6

Langer-Giedion syndrome

Answer 6

Craniofacial dysmorphism, skeletal abnormalities, mild to severe mental deficiency

Question 7

Lissencephaly

Answer 7

Smooth brain, profound retardation, seizures

Question 8

Miller-Dieker syndrome

Answer 8

Lissencephaly, microcephaly, high forehead, small nose, micrognathia, low-set ears

Question 9

Prader-Willi syndrome

Answer 9

Hypotonia at birth, almond-shaped eyes, moderate to severe MR, absent sense of satiation leading to overeating, small hands and feet, hypogonadism

Question 10

Retinoblastoma

Answer 10

Tumors of the retinoblast cells of the eye

Question 11

Rubinstein-Taybi syndrome

Answer 11

Beaked nose, prominent columella, hypoplastic maxilla, downslanted palpebral fissures, broad thumbs and first toes, MR, speech delay

Question 12

Smith-Magenis syndrome

Answer 12

Brachycephaly, midface hypoplasia, broad nasal bridge, prominent jaw, short broad hands, hyperactivity, delayed speech, self-destructive behavior, MR

Question 13

Velocardiofacial syndrome

Answer 13

Palatal defects, hypoplastic alae nasi with long nose, learning disability, congenital heart disease

Question 14

WAGR

Answer 14

Wilms tumor, aniridia, genitourinary defects, and mental retardation

Question 15

Williams syndrome

Answer 15

Low IQ, hypersensitivity to sound, blue eyes with stellate pattern in the iris, prominent lips, hoarse voice, supravalvular aortic stenosis or other cardiac defect, hypercalcemia, premature aging of the skin