Notes in LE010 Genetic Conditions Frequently Encountered in Children

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Published	10/12/2024	For multifactorial disorders, evaluation and counseling is based on {{c1::empirical data}}
Published	10/08/2024	{{c1::22q11 deletion}} syndromeAlso known as {{c1::velocardiofacial syndrome (VCFS), DiGeorge syndrome (DGS)}}Old acronym CATCH 22: cardiac,…
Published	10/04/2024	CF screening/diagnosis:Newborn screening (NBS) for CF via {{c1::Immunoreactive trypsinogen (IRT)}}An immunofluorescence assay that measures levels of …
Published	10/04/2024	Noonan syndrome:Incidence {{c1::1/1000 – 1/2500}}Genes responsible for this condition are part of the {{c1::RAS/MAPK pathway}}{{c1::PTPN11}} in 50% of…
Published	10/12/2024	Most common sex chromosome disorders{{c1::Turner syndrome (XO)}}: Typically a mild syndrome in females with short stature and infertility{{c2::Klinefe…
Published	10/04/2024	HEXA clinical features:Disease {{c1::continuum}}
Published	10/04/2024	22q11 deletion clinical features:{{c1::- cardiac malformation, tetralogy of fallot, VSD, IAA- palate abnormalities- T-cell deficiency- parathyroid def…
Published	10/04/2024	HEXA disorders:Autosomal {{c1::Recessive}} {{c1::Lysosomal}} Storage Disease due to biallelic lose of function mutation in the HEXA gene.Alternative n…
Published	10/04/2024	Rett syndrome clinical features:- female phenotype {{c1::variable}}
Published	10/04/2024	Trisomy 21 screening:- Ultrasound in 1st or 2nd trimester to detect {{c1::skeletal features or measure nuchal translucency}}- Maternal blood test for …
Published	10/04/2024	Most common clinical features of trisomy 21: {{c1::- flat facial profile - hypotonia- poor Moro reflex }}
Published	10/04/2024	Noonan syndrome clinical features:{{c1::- lymphedema- short stature- heart defects: pulmonic stenosis, or cardiomyopathy}}
Published	10/04/2024	Rett syndrome:The worldwide prevalence is {{c1::1:10,000-1:23,000 female births}}Caused by inactivating mutations in {{c1::MECP2 }}gene which encodes …
Published	10/04/2024	HEXA screening and diagnosis:Not included in CT Newborn ScreeningPrevented by {{c1::carrier screening in the high-risk population}}Diagnosis is establ…
Published	10/04/2024	Turner syndrome's common clinical features:{{c1::- cystic hygroma, lymphedema, webbed neck, broad chest, widely spaced nipples, low posterior hairline…
Published	10/04/2024	Trisomy 21 can also be caused by translocation- {{c1::3-4}}%- parents must be investigated
Published	10/04/2024	Turner syndrome:Incidence {{c1::1/2500 live female birth}}Most common cause of ovarian {{c1::dysgenesis}} and {{c1::primary ovarian insufficiency}}Eti…
Published	10/04/2024	Trsimoy 21 inheritance/recurrence risk {{c1::- mostly sporadic - translocations are heritable}}
Published	10/04/2024	Cystic fibrosis:CF is the most common {{c1::life-limiting Autosomal Recessive}}disorder in individuals of northern European background, incidence of{{…
Published	10/04/2024	Trisomy 13 clinical features:- median survivial {{c1::7 days, 91% die within first year}}- severe {{c1::intellectual disability}}- {{c1::microencephal…
Published	10/04/2024	CF common clinical manifestations: {{c1::- severe lung disease- pancreatic insufficiency- liver cirrhosis- inferility in males (sperm production)- si…
Published	10/12/2024	HEXA Disorders pathophysiology: {{c1::Beta-Hexosaminidase A}} is required for degradation of GM2 ganglioside; without it, GM2 ganglioside builds …
Published	10/04/2024	Deafness—population prevalence in infants {{c1::1/1000 }}About {{c1::50% }} have genetic causes
Published	10/04/2024	Duchenne Muscular Dystrophy:The overall incidence of DMD – {{c1::1/3,500}}In Canada (Nova Scotia) - one in {{c1::4,700 live male births}} and has rema…
Published	10/04/2024	CF treatment:Treatment of {{c1::respiratory complications}}: dornase alfa, antibiotics, anti- inflammatory agents, combined therapy, lung or heart/lun…
Published	10/04/2024	Noonan syndrome diagnosis:Diagnosis:Molecular genetic testing identifying a heterozygous pathogenic variant a panel of genes associated with Noonan sy…
Published	10/04/2024	Most common clinical features of trisomy 21:{{c1::- major congenital malformation of the heart (AVSD) and GI tract - increased incidence of leukemia (…
Published	10/12/2024	Duchenne Muscular DystrophyDiagnosis: {{c1:: Creatine kinase and aldolase elevation}}Genetic analysis (confirmatory test): detect {{c1::dystrophi…
Published	10/04/2024	Pediatric hospital admissions: {{c1::2.6%}} primary diagnosis is a genetic disorder {{c1::14% }}At least one genetic diagnosis on problem list
Published	10/04/2024	Trisomy 18 Clinical features:{{c1::- growth deficiency- cardiac defects + CNS, GI deficiencies- diaphragmatic hernia- overlapping of index over 3rd, …
Published	10/04/2024	Trisomy 18 (Edward's syndrome)2nd most common autosomal trisomyIncidence: {{c1::1 per 3-4000 live births}}{{c1::3:1}} F:M ratioDiagnosisKaryotyping -{…
Published	10/04/2024	Trisomy 13 (Patau Syndrome):Incidence ~ {{c1::1/5,000-1/10,000 births }}DiagnosisKaryotyping - {{c1::47,XX,+13, 47,XY,+13}}FISH for {{c1::quick turn a…
Published	10/04/2024	Diagnosis of Turner Syndrome:DiagnosisKaryotyping:{{c1:: 45,XO, 45,XO/45,XX, 45,XO/45,XY}}Evaluate for {{c1::X-linked recessive conditions}} in patien…
Published	10/04/2024	DMD clinical features:- {{c1::mild to severe}}
Published	10/04/2024	Trisomy 21 (Down Syndrome) Frequency: {{c1::~1:700 live births}}MOST COMMON AUTOSOMAL CHROMOSOME ABERRATIONMOST COMMON GENETIC CAUSE OF COGNITIVE IMPA…
Published	10/12/2024	Genome diversity is the {{c1:: rule}} not the {{c1::exception}}
Published	10/12/2024	What are the 3 basic types of genetic disease?
Published	10/12/2024	What are the most common chromosomal aneuploidies seen among live-born infants?
Published	10/04/2024	What are the chromosomal aneuploidies infrequently detected among live-born infants?
Published	10/12/2024	Why aren’t other chromosomal abnormalities equally represented?
Published	10/04/2024	Interpret this exome sequencing:
Published	10/04/2024	What are the key medical problems in Klinefelter’s syndrome adults? (8)
Published	10/04/2024	What are key problems in Turner syndrome adults?
Published	10/12/2024	Why is mosaic Turner syndrome a problem?
Published	10/04/2024	If you see a patient with this skin condition, what is the can’t-miss genetic condition?
Published	10/04/2024	Syndromes that look like Marfan’s, but aren’t: (2+)
Published	10/04/2024
Published	10/04/2024	What are the features common to many single gene traits? (4)
Published	10/04/2024	Many single gene traits often run in families except for these three cases:
Published	10/04/2024	What are four well-known polygenic traits? How many multifactorial traits?
Published	10/04/2024	What are the characteristics of multifactorial traits?
Published	10/04/2024	What are some rules of thumb for clinicians?
Published	10/04/2024	What are a healthcare provider’s responsibilities in the genomic age?
Published	10/04/2024	What is the distinction between a clinical geneticist and a genetic counselor? When will a PCP be sufficient?
Published	10/04/2024	How does GINA of 2008 provide protections against some forms of genetic discrimination? What does it not protect against/what are its limitations?
Published	10/12/2024	Most common microdeletion syndromes
Published	10/12/2024	Humans have {{c1::~27500}} genes and more than {{c1::4900}} cause a known human disease or other distinctive phenotype
Published	10/12/2024	{{c1::Chromosome microarrays (CMA)}} are high resolution molecular karyotypes that are useful screening tools for {{c2::deletion}} and {{c2::duplictio…
Published	10/12/2024	{{c1::DiGeorge/VCF Syndrome (22q11 deletion syndrome)}} (1/4000)Presentation: (CATCH22) {{c1::cardiac defects, abnormal face, thymic hypoplasia (…
Published	10/12/2024	{{c1::Noonan Syndrome}} (1/1000)Presentation: (6 C’s) congenital facial abnormalities, chest abnormalities, congenital heart defects, cystic hygroma, …
Published	10/12/2024	{{c1::Cystic fibrosis}} (1/3000)Presentation: sinus infections, mucus buildup in lungs, reproductive complications, pancreatic insufficiency, GI probl…
Published	10/12/2024	{{c1::Duchenne’s Muscular Dystrophy (DMD)}}Presentation: severe, delayed motor milestones, waddling gait, difficulting climbing stairs, running, jumpi…
Published	10/12/2024	{{c1::Rett syndrome}} (1/10,000-23,000 females)Presentation: Female: intellectual/motor decline beginning at 2 y.o., ataxia, seizures, hand-wring…
Published	10/12/2024	{{c1::Prader-Willi Syndrome (PWS)}}Presentation: Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia, short statureGenetics: Patern…
Published	10/12/2024	{{c1::HEXA Disorders}} (1/3000)AKA: Beta-Hexosaminidase A Deficiency; GM2 Gangliosidosis, Type I; Tay-Sachs DiseasePresentation: Diseas…
Published	10/12/2024	Cystic Fibrosis Diagnosis: Newborn screening via {{c1::immunoreactive trypsinogen (IRT)}}
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