Abgc Practice Exam

Front 1

A 13 year old girl is seen for frequent nosebleeds, When taking family history, what is most important to ask about?

Back 1

Gastrointestinal bleeds

Front 2

A pregnant woman has an ultrasound that identifies a lumbar meningomyelocele in the fetus. Which of the following exposures is MOST closely associated with this birth defect?

Back 2

Valproic Acid

Front 3

Hereditary non-polyposis colorectal cancer--
associated primary cancers

Back 3

CRC
Endometrial
Pancreatic
Ovarian

Front 4

Fetal karyotype with de novo marker chromosome derived from chromosome 22. Fetus at risk for

Back 4

Cat-Eye Syndrome

Front 5

2 year old boy with dilated aortic root, no FBN1 abnormalities and what else is expected?

Back 5

Bifid Uvula

(Loeys-Dietz Syndrome?)

Front 6

4 year old girl evaluated for Fra X, what is most suggestive of Fra X:
Maternal grandmother had early menopause
Paternal GF and brothers have tremors
Father completed 9th grade only
Maternal uncle has son with autism

Back 6

Maternal grandmother had early menopause

Front 7

Under HIPAA Privacy Rule, which is considered protected health information:
5-digit zip code
year of birth
gender
age of disease onset

Back 7

5-digit zip code

Front 8

55 year old woman with thyroid cancer referred for GC: surgical excision of grown on neck and colon polyps at 50; fm hx unavailable, head circumference above 98th percentile, which gene test should be ordered?

Back 8

PTEN

Front 9

Diagnosis of Meckel-Gruber syndrome suspected in stillborn fetus with MCA. Which is the most significant feature in establishing dx:

Back 9

cystic renal disease

Front 10

6 year old boy with congenital mild hearing loss, worsened after a fall. No dysmorphic features, negative fm hx. Head CT showed bilateral enlargement of vestibular aqueducts. Most likely cause:

Back 10

Pendred syndrome

Front 11

Considering testing of young children for adult onset disorders, what is ethical issue to consider

Back 11

AUTONOMY

Front 12

This first trimester screening pattern suggests what disorder?
high free beta hCG, low PAPP-A, nuchal translucency greater than 3mm

Back 12

Trisomy 21

Front 13

MERFF Stands for and is inherited how?

Back 13

Myoclonic Epilepsy with Ragged Red Fibers
Mitochondrial tRNA Mutation
Maternally Inherited

Front 14

Ashkenazi Jewish Carrier Frequencies:
Canavan
Gaucher
Tay Sachs
CF

Back 14

Canavan: 1/40-80
Gaucher: 1/10
Tay Sachs: 1/28
CF: 1/29 (caucasians), 1/46 (hisp), 1/65 (black), 1/90 (asian)

Front 15

5 yo girl with dysmorphic features, dev delay, fair skin, microcephaly, prominent jaw, wide-based gait, seizures since 6mos, walked at 23 mo, no speech.

Which test to run??

Back 15

chromosomal micro-array

(better than FMR1 testing, MECP2 gene sequencing, urine organic acid screen)

Front 16

Mutations in the MECP2 gene cause:
(methyl CpG binding protein 2)

Back 16

Rett Syndrome (X-linked dominant) brain disorder that causes problems with communication, learning, and coordination.
over 390 mutations identified

Front 17

Velocardiofacial Syndrome

Back 17

cleft palate, heart defects, problems fighting infection; low calcium levels; differences in the way the kidneys are formed or work; a characteristic facial appearance; learning problems; and speech and feeding problems.
(most missing part of chromosome 22)

Front 18

Other names for Velocardiofacial Syndrome

Back 18

22q11.2 deletion syndrome,
DiGeorge syndrome,
Conotruncal Anomaly Face syndrome (CTAF), autosomal dominant Opitz G/BBB syndrome or
Cayler Cardiofacial syndrome

Front 19

Stickler Syndrome

Back 19

a distinctive facial appearance - flat face,
pierre robin sequence
eye abnormalities (myopia, glaucoma, retinal issues),
hearing loss, and
joint problems
NO MENTAL IMPAIRMENT

Front 20

Pierre Robin Sequence includes:

Back 20

a cleft palate,
glossoptosis (tongue further back than normal),
micrognathia, (small lower jaw)
This combination of features can lead to feeding problems and difficulty breathing.

Front 21

Frequency and Inheritance of Stickler Sydnrome

Back 21

1 in 7,500 to 9,000 newborns
,genes cause Stickler syndrome types I through V
Type 1-3: Aut. Dominant (COL2A1, COL11A1, COL11A2)
Type 4-5: Autosomal Recessive (COL9A1, and COL9A2 )

Front 22

Maroteaux-Lamy syndrome

Back 22

Mucopolysaccharidosis type VI (MPS VI);
Autosomal recessive (ARSB gene)
1 in 250,000 to 600,000;
(ONLY MPS with no mental impairment)
macrocephaly,
hydrocephalus,
"coarse" facial features
macroglossia

Front 23

Von-Hippel Lindau Syndrome

Back 23

AD (VHL gene), 20% new mutations
formation of tumors and fluid-filled sacs (cysts) in many different parts of the body
hemangioblastomas (blood vessel tumors, dangerous)
cysts in the kidneys, pancreas, and genital tract
pheochromocytoma (us. non-cancerous)

Front 24

What is unusual about VHL autosomal dominant inheritance?

Back 24

2 copies of the VHL gene must be altered to trigger tumor and cyst formation. A mutation in the second copy of the VHL gene occurs during a person's lifetime in certain cells within organs such as the brain, retina, and kidneys. Cells with two altered copies of this gene make no functional VHL protein, which allows tumors and cysts to develop. Almost everyone who inherits one VHL mutation will eventually acquire a mutation in the second copy of the gene in some cells, leading to the features of von Hippel-Lindau syndrome.