Genetics

Question 1

What is the most likely diagnosis for child presenting with delayed gross motor milestones, upward displacement of shoulder and abnormal lateral rotation of scapula when child if lifted with hands under the arm?

Answer 1

Duchenne Muscular Dystophy

other sign- Gower sign- way stand up

Question 2

What is the most likely diagnosis for patient presenting with ataxia, absent speech, inappropriate bouts of laughter, microcephaly and seziures?

Answer 2

Angelman Syndrome

due to deletion of maternal material of chromosome 15

Question 3

What is the most likely diagnosis for patient presenting with macrocephaly, developmental delay, ADHD, and more than 6 cafe-au lait macules?

Answer 3

Neurofibromatosis (NF) 1

Question 4

What is the likely cause of precocious puberty signs in patient with NF-1?

Answer 4

optic glioma

peaks at age 4

Question 5

What is the most likely diagnosis for pt presenting with signs consistent with supravalvular aortic stenosis, elfin like facies (full face, broad forehead, flattened nasal bridge, rounded full cheeks), strong expressive language skills, socially engaging and charming?

Answer 5

Williams Syndrome

due to mutation in elastin gene on chromosome 7q11.23

Question 6

The description of multiple rings of iris hypoplasia that surround normal iris stroma in speckled appearance is consistent with..

Answer 6

Brushfield spots

Question 7

What diagnosis is associated with Brushfield spots?

Answer 7

Down syndrome

Question 8

What GI disease is associated with Down syndrome?

Answer 8

Celiac Disease

elevated ttG

Question 9

What is the likely diagnosis of newborn with poor feeding/ sucking, polyhydramnios on prenatal ultrasound, decreased muscle mass, hypotonia and undescended testicle?

Answer 9

Myotubular myopathy

Question 10

What is the genetic mutation associated with NF1?

Answer 10

mutation on long arm of chromosome 17

Question 11

What is the most likely diagnosis for patient presenting with prolonged jaundice (direct elevated), pulmonic stenosis with VSD, butterfly vertebrae, and liver biopsy showing chronic cholestasis and paucity of interlobular bile ducts?

Answer 11

Alagille Syndrome (arteriohepatic dysplasia)

Question 12

What is associated with type 2 jejunoileal atresia (solid, fibrous cord connects blind ends of proximal and distal bowel)?

Answer 12

Maternal cocaine and tobacco use

Question 13

What is the most likely diagnosis for patient with pulmonic stenosis, short stature, pectus excavatum, webbed neck, low set ears, hypertelorism, lymphedema, and bleeding diatheses (i.e factor 11 deficiency)?

Answer 13

Noonan syndrome

Question 14

what is the most likely diagnosis for patient presenting with hypotonia, flat midface, epicanthal folds, AV canal defect and brushfield spots?

Answer 14

Down syndrome

trisomy 21

Question 15

What does VACTERL stand for?

Answer 15

V-vertebral
A- anal atresia
C- cardiac
T- trachae
E- esophageal
R- renal
L-limb defects

Question 16

What is the most likely diagnosis for patient with ADHD, intellectual disabilit, hypertension due to renal artery stenosis, supravalvular aortic stenosis, and elfin like facial features (broad forehead, medial eyebrow flare, flattened nasal bridge)?

Answer 16

Williams Syndrome

Question 17

What is the genetic abnormality that results in Williams syndrome?

Answer 17

7q11.23 deletion

Question 18

What is the most likely diagnosis for patient with refusal to bear weight and Xray showing unilateral anterolateral angulation (bowing) if the tibia that progresses to fracture? What disease is it associated with?

Answer 18

Congenital pseudoarthrosis; NF type 1

Question 19

What is the most likely diagnosis for child with choanal atresia, GU deformity, cardiac deformity, micropenis/ cryptorchidism, developmental delay and coloboma of retina?

Answer 19

CHARGE syndrome

Question 20

What is the most likely diagnosis for patient presenting with VSD (holosystolic harsh murmur), hypocalcemia, absent thymus, and small cupped ears?

Answer 20

DiGeorge Syndrome
(due to microdeletion on chromosome 22)

Question 21

What does VACTERL stand for?

Answer 21

V: vertebral
A: anal atresia
C: cardiac
T: tracheoesophageal
E: esophageal atresia
R: renal
L: limb

Question 22

What is the most likely diagnosis for male patient with testicular volume less than 5 ml (even as adolescent), gynecomastia, intellectual disability, scoliosis, poor motor skills, socially awkward, and narrow shoulders?

Answer 22

Klinefelter Syndrome

47,XXY