Genetics Flashcards
Macrocephaly, large ears, prognathism, a high arched palate associated with what genetic condition?
Fragile x syndrome
What genetic syndrome is the single most common form of inherited intellectual disability?
Fragile x syndrome
What eye abnormalities are associated with Marfan syndrome?
Severe myopia, lens subluxation
What are the most common congenital heart disease is associated with trust me 21?
AV canal defect as well as an ASD or VSD
What inborn errors of metabolism typically present in newborn or early infancy?
Disorders of carbohydrate in protein metabolism as well as disorders of energy production
What cardiac abnormalities are associated with fragile x syndrome?
Mitral valve prolapse, aortic dilation, pectus excavatum
Where’s the mutation for marfan syndrome located?
Chromosome 15
What is the mean survival rate for trisomy 18?
Males 58 days females 282 days
Corneal opacity, optic disc coloboma, low set ears, micrognathia are characteristic of what genetic abnormality?
Trisomy 18
Syndrome is characterized by a karyotype of XO?
Turner syndrome
What errors of inborn metabolism typically present in liter infancy or childhood?
Disorders of fatty acid oxidation, glycogen storage and lysosomal storage
Urge what gene mutation is the result of charge syndrome?
Mutation in the CDH7 gene autosomal dominant
What genetic syndrome is the leading cause of death and blindness?
Charge syndrome
What inborn errors of metabolism typically present in newborn or early infancy?
Disorders of carbohydrate in protein metabolism as well as disorders of energy production
Neonatal lymphedema is associated with what genetic condition?
Turner syndrome
Are people with Turner syndrome able to have children?
They developed no secondary sex characteristics
What is the most common cardiac lesion associated with Turner syndrome?
Coarctation of the aorta
Short stature, broadcast, wide-spaced nipples, short web neck are associated with what genetic syndrome?
Turner syndrome
What does charge syndrome stand for?
C: coloboma of eye
H: heart defects
A: atresia of nasal choanae
R: retardation of growth and development
G: genital and or urinary abnormalities
E: ear abnormalities/deafness
What genetic condition is associated with a horseshoe kidney or duplicated collecting systems?
Turner syndrome
What are the cardiac abnormalities associated with Marfan syndrome?
Aortic dilation, mitral valve prolapse, dilation of main pulmonary artery
What finding causes an increase risk of spinal cord injury and trust me 21?
Atlanta axial instability which is an increased mobility at first and second cervical vertebrae
What congenital anomalies or syndromes are associated with polyhydramnios?
In encephaly, hydrocephalus, t e f, duodenal atresia, spina bifida, cleft lip/palette, achondroplasia, twice me18, TORCH, hydrops fetalis
What genetic morality is associated with severe neurologic manifestations such as seizures developmental delay disturbance and cerebral development or meningomyeloceole?
Trisomy 18
Multiple spontaneous pneumothoraxes should make you suspicious for what genetic condition?
Marfan syndrome
What’s your next conditions associated with oligohydramnios?
Growth restriction compression syndrome such as clubfoot or pulmonary hypoplasia, twin to twin transfusion, renal agenesis, prune belly syndrome, chromosomal abnormalities such as trust me 21
