General Genetic Conditions Flashcards
What is the most common cardiac anomaly of Turner’s syndrome?
Coarctation of the aorta
What is the prevalence of klinefelter syndrome?
1/450 men
What are the comorbidities of klinefelter syndrome?
Metabolic syndrome, hypothyroidism, VTE, osteoporosis, increased cancer risk
What is the chromosomal abnormality of DiGeorge syndrome?
Deletion at 22q11.2
What is the most common congenital heart disease of DiGeorge syndrome?
Conotruncal malformations
What is the inheritance pattern of huntington disease?
Autosomal dominant
How many repeats is required for huntington’s disease?
36-39 reduced penetrance
>40 full penetrance
What are the features of mild myotonic dystrophy?
Cataract, mild myotonia, diabetes mellitus
What are the features of classic myotonic dystrophy?
Muscle weakness and wasting, myotonia, caatact, cardiac conduction abnormalitites, diabetes, thyroid disease, testicular atrophy, GI disturbance
What is the mutation of myotonic dystrophy?
Expansion of CTG trinucleotide repeat in DMPK gene
What are dystrophinopathies?
x-linked muscle disease caused by pathogenic variants in the DMD gene which encodes the dystrophin protein
What mutation causes marfan syndrome?
Pathogenic variants in the FBN1 gene (autosomal dominant)
What are the most common eye features of marfan syndrome?
Myopia and ectopia lentis
What is the most common cardiovascular feature of marfan syndrome?
Aortic dilatation
What are the features of Noonan syndrome?
Short stature Characteristic physical features Congenital heart disease Developmental delay Coagulation defects Lymphatic dysplasia Cryptochidism Neoplasms
