Notes in Genetics

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Published	04/01/2024	{{c1::Sturge-Weber Syndrome::Most likely diagnosis}}: 2 yr old w/ port wine stain (facial angioma) on face, headache, new onset seizures, hemipar…
Published	04/01/2024	An adult patient with an intellectual disability, adenoma sebaceum, and subungual fibromas presents with headache and papilledema. MRI scan shows obst…
Published	04/01/2024	16 yo M presents w/ acute stroke and AMS. MRI revealed multiple subcortical infarcts oon DWI. Pt found to have NOTCH3 mutation in gene testing. What i…
Published	04/01/2024	Fabry's disease:X-linked l{{c1::ysosomal storage disease::type of disease}}deficiency of {{c2::alpha-galactosidase A'}}p/w pain in ext, FSGN, corneal …
Published	04/01/2024	Enzyme involved for the following diseases:1. Fabry's:  {{c6::alpha galactosidase A}}2. Niemann-Pick: {{c5::Sphingomyelinase}}3. Sandhoff: {…
Published	04/01/2024	Pompe's disease enzyme deficiency? {{c1::Acid maltase (alpha 1,4-glucosidase)::name of enzyme}}
Published	04/01/2024	Describe Tuberous sclerosis:infantile spasms, seizures, intellectual disability, dev delay, Shagreen patchesMRI with cortical tubers and/or subependym…
Published	04/01/2024	Zellweger syndrome:{{c1::cerebrohepatorenal syndrome::Other name for condition}}high forehead, {{c2::deformed}} ear lobes{{c3::peroxisome::part of mit…
Published	04/01/2024	What causes pyridoxone-dependant seizures? M{{c1::utations in the antiquitin gene (ALDH7A1) }}
Published	04/01/2024	Pediatric patient presents with feeding difficulties and has sweet smelling urine. What is the most likely diagnosis? {{c1::Maple Syrup Urine Dis…
Published	04/01/2024	Child presents with hyptonia, seizures, hepatomegaly. Found to have mutated PEX gene. What is the most likely diagnosis? {{c1::Zellwegger syndrom…
Published	04/01/2024	5 year old presents with developmental delay, lack of social skills. Exam reveals microcephaly, abnormal gait with jerkey movements of the limbs, wide…
Published	04/01/2024	A 41-year-old woman presents with a 7-year history of progressive ataxia of the lower extremities with recent involvement of the upper extremities. Ga…
Published	04/01/2024	A 40-year-old man with a history of myocardial infarction presents with progressive painful dysesthesias in the upper and lower extremities and freque…
Published	04/01/2024	Which of the following is not an X-linked recessive disorder?A. Duchenne muscular dystrophyB. Lesch-Nyhan diseaseC. Menkes diseaseD. Ornithine transca…
Published	04/01/2024	If inherited, intellectual disability most often is inherited in an {{c1::X-linked}} pattern.
Published	04/01/2024	Fabry disease is {{c1::X-linked recessive::inheritance}}.Aicardi disease, incontinentia pigmenti, and Rett syndrome are {{c2::X-linked dominant.::inhe…
Published	04/01/2024	Name the trinucleotide repeat:Dentatorubral-pallidoluysian atrophy (DRPLA): {{c1::CAG}}Fragile X syndrome: {{c1::CGG}}Kennedy disease: {{c1::CAG}…
Published	04/01/2024	Spinocerebellar ataxia type 6 (SCA6) and oculopharyngeal muscular dystrophy are triplet repeat diseases that do not demonstrate {{c1::anticipation.}}
Published	04/01/2024	{{c1::Immune Reconstitution Inflammatory Syndrome (IRIS)}}: Syndrome occurring primarily in HIV-positive patients after initiating highly active antir…
Published	04/01/2024	Dental enamel pits: {{c1::Tuberous sclerosis complex::associated condition}}
Published	04/01/2024	DCX gene (doublecortin protein) abnormality: {{c1::X-linked lissencephaly::Diagnosis}}
Published	04/01/2024	PLP1 on chromosome Xq22.2: {{c1::Pelizaeus-Merzbacher disease::Associated Condition}}
Published	04/01/2024	{{c1::Tangier disease::Condition}}, which is an autosomal recessive familial neuropathy, caused by mutations affecting the adenosine triphosphate cass…
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