Notes in IS007 Genetics Case-Based Discussion #1

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Published	10/07/2024	The clinical presentation of {{c1::DiGeorge/VCF syndrome}}:CATCH22:Cardiac defectAbnormal faceThymic hypoplasiaCleft palateHypocalcemiaq22 deletionAls…
Published	10/07/2024	{{c1::Beckwith-Wiedemann}} syndromeoccurs in 1:10,000symptoms: macrosomia, macroglossia, omphalocele (intestines, organs stick out of abdomen), n…
Published	10/07/2024	Genetic etiology of {{c5::Beckwith-Wiedemann Syndrome}}WT2 gene mutation on chr11 leads to defective genetic {{c1::imprinting (maternal imprinting cen…
Published	10/07/2024	Beckwith-Wiedemann Syndrome genetic counseling{{c1::85}}% cases are sporadic - low recurrence riskif mother carries {{c2::imprinting center}} mutation…
Published	10/07/2024	22q11 deletion syndrome (velocardiofacial syndrome/VCFS; DiGeorge syndrome)genetic etiology: {{c1::haploinsufficiency}} of genes at 22q11.2 inher…
Published	10/07/2024	22q deletion diagnostic tests:1) {{c1::CMA ("chromosomal microarray"; oligo+SNP microarray)}} for nonspecific phenotype 2) {{c2::FISH}} test for …
Published	10/07/2024	{{c1::Cri du Chat ("cat-like cry")}} Syndrome microcephalypre- and postnatal growth deficiencyintellectual disabilityhypotoniacongenita…
Published	10/07/2024	Cri du Chat genetic etiologyAKA "{{c1::5P del}} syndrome" because shortened {{c2::p arm of chr5}}85% cases are {{c3::sporadic de novo deletions}}15% c…
Published	10/07/2024	Cri du Chat/5p del syndrome diagnosis:1) {{c1::karyotype or CMA}} for nonspecific test of dysmorphia or congenital anomalies2) FISH {{c2::targeted ana…
Published	10/07/2024	{{c1::Williams (Williams-Beuren) Syndrome or WBS}}intellectual disabilityhypersociabilitycardiovascular diseasesdistinctive, elfin face (wide mouth, p…
Published	10/07/2024	WBS (Williams-Beuren Syndrome) genetic etiologymicrodeletion of 7q11.23; lose {{c1::hemizygosity}} for {{c2::elastin}} gene responsible for {{c3::supr…
Published	10/07/2024	WBS (Williams-Beuren Syndrome) diagnosis{{c1::clinical}} criteriaFISH targeted {{c2::elastin}} gene along with chromosome {{c4::7 }}{{c3::CMA}} f…
Published	10/07/2024	Risk of child inheriting mutation from clinically unaffected parents is higher compared to risk of general population due to possibility of {{c1::germ…
Published	10/07/2024	Ornithine Transcarbamylase (OTC) deficiency= {{c1::most}} common {{c2::urea cycle}} disorderinheritance pattern: {{c3::X-linked, recessive}}{{c4::male…
Published	10/07/2024	{{c1::Ornithine Transcarbamylase deficiency}} high ammonia levels (>1000-3000 umol/L)poor feedinglethargicaltered mental statusseizurecomacan …
Published	10/07/2024	ornithine carbamylase (OTC) deficiency treatment for males ({{c4::neonatal}} onset):severely affected with hyperammonemic crisis, require {{c1::liver}…
Published	10/07/2024	Ornithine Transcarbamylase (OTC) deficiency in females ({{c1::postnatal}}-onset due to partial OTC deficiency)often first symptomatic in infancy when …
Published	10/07/2024	{{c1::Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency}} is involved in mitochondrial fatty acid beta-oxidation (fuels hepatic ketoge…
Published	10/07/2024	MCAD deficiency (MCADD)diagnostic testing:plasma {{c1::acylcarnitine}} levels - increased {{c2::C8 and C8:C10 acyl-carnitine}}{{c3::ACADM}} gene testN…
Published	10/07/2024	{{c1::Maple Syrup Urine Disease}}very acute onset after birth:12 hr after birth: maple syrup odor in cerumen (earwax) and in urine by 5-7 days old12-2…
Published	10/07/2024	{{c1::Methylmalonic aciduria}}onset from neonatal to adulthoodneonatal presentation:vomiting and poor feedinglethargy progressing to comaseizureshyper…
Published	10/07/2024	Distinguishing genetic disorders:{{c1::Prader-Willi syndrome}}: affected male, presenting at 3 y.o., delayed cognitive/motor development, behavioral p…
Published	10/13/2024	Genetic etiology for {{c1::Prader-Willi Syndrome}}:de novo deletion of 15q11-q13 on paternal chromosome = 75-80% cases, <1% recurrence riskmaternal…
Published	10/07/2024	Genetic inheritance via X-linked dominant vs mitochondrial:{{c1::mitochondrial}} - only passed maternally, no paternal transmission, both sons and dau…
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