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24 Cards in this Set
- Front
- Back
A 13 year old girl is seen for frequent nosebleeds, When taking family history, what is most important to ask about?
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Gastrointestinal bleeds
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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?
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Valproic Acid
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Hereditary non-polyposis colorectal cancer--
associated primary cancers |
CRC
Endometrial Pancreatic Ovarian |
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Fetal karyotype with de novo marker chromosome derived from chromosome 22. Fetus at risk for
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Cat-Eye Syndrome
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2 year old boy with dilated aortic root, no FBN1 abnormalities and what else is expected?
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Bifid Uvula
(Loeys-Dietz Syndrome?) |
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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 |
Maternal grandmother had early menopause
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Under HIPAA Privacy Rule, which is considered protected health information:
5-digit zip code year of birth gender age of disease onset |
5-digit zip code
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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?
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PTEN
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Diagnosis of Meckel-Gruber syndrome suspected in stillborn fetus with MCA. Which is the most significant feature in establishing dx:
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cystic renal disease
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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:
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Pendred syndrome
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Considering testing of young children for adult onset disorders, what is ethical issue to consider
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AUTONOMY
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This first trimester screening pattern suggests what disorder?
high free beta hCG, low PAPP-A, nuchal translucency greater than 3mm |
Trisomy 21
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MERFF Stands for and is inherited how?
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Myoclonic Epilepsy with Ragged Red Fibers
Mitochondrial tRNA Mutation Maternally Inherited |
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Ashkenazi Jewish Carrier Frequencies:
Canavan Gaucher Tay Sachs CF |
Canavan: 1/40-80
Gaucher: 1/10 Tay Sachs: 1/28 CF: 1/29 (caucasians), 1/46 (hisp), 1/65 (black), 1/90 (asian) |
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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?? |
chromosomal micro-array
(better than FMR1 testing, MECP2 gene sequencing, urine organic acid screen) |
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Mutations in the MECP2 gene cause:
(methyl CpG binding protein 2) |
Rett Syndrome (X-linked dominant) brain disorder that causes problems with communication, learning, and coordination.
over 390 mutations identified |
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Velocardiofacial Syndrome
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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) |
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Other names for Velocardiofacial Syndrome
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22q11.2 deletion syndrome,
DiGeorge syndrome, Conotruncal Anomaly Face syndrome (CTAF), autosomal dominant Opitz G/BBB syndrome or Cayler Cardiofacial syndrome |
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Stickler Syndrome
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a distinctive facial appearance - flat face,
pierre robin sequence eye abnormalities (myopia, glaucoma, retinal issues), hearing loss, and joint problems NO MENTAL IMPAIRMENT |
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Pierre Robin Sequence includes:
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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. |
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Frequency and Inheritance of Stickler Sydnrome
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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 ) |
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Maroteaux-Lamy syndrome
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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 |
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Von-Hippel Lindau Syndrome
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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) |
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What is unusual about VHL autosomal dominant inheritance?
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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.
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