Notes in LE014 Non-Mendelian Inheritance Part 1

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Status	Last Update	Fields
Published	10/04/2024	What are the genetic mechanisms of Prader-Willi Syndrome?
Published	10/14/2024	{{c1::Prader-Willi Syndrome (PWS)}}Presentation: Hyperphagia & food-seeking behavior starting at 2-4 years, obesity, intellectual disability, hypo…
Published	10/14/2024	{{c1::Angelman Syndrome}}Presentation: Microcephaly, seizures, spasticity, ataxia, moderate-severe intellectual disability, inappropriate laughte…
Published	10/14/2024	{{c1::Beckwith Wiedemann Syndrome (BWS)}}Presentation: Macrosomia (large for gestational age), macroglossia (large tongue), nephro/adrenomegaly, …
Published	10/14/2024	Imprinted genes tend to be {{c1::clustered}} in the genome and under the control of discrete DNA elements called {{c1::imprinting centers (ICs)}}
Published	10/14/2024	Genomic imprinting involves the {{c1::silencing}} of either the maternal or paternal copy of a gene during early development, such that the expresson …
Published	10/14/2024	When a gene is imprinted, it is , {{c1::hemizygous}} at that locus
Published	10/14/2024	What types of genetic changes cause imprinting disorders? (4)
Published	10/14/2024	Most genes {{c1::are not}} imprinted
Published	10/14/2024	Silencing of imprinted genes is the result of {{c1::DNA methylation}}
Published	10/14/2024	Genomic imprinting is {{c1::established}} in germline cells and {{c1::maintained}} in all somatic cells
Published	10/14/2024	Imprinting occurs during {{c1::gametogenesis}}, so that correct alleles are imprinted before the fusion of gametes
Published	10/14/2024	All gametes are imprinted according to the {{c1::biological sex}} of the individual
Published	10/14/2024	Females imprint {{c1::maternally}} imprinted genes in all egg cells
Published	10/14/2024	Males imprint {{c1::paternally}} imprinted genes in all sperm cells
Published	10/14/2024	{{c1::Imprinting centers}} control the coordinated imprinting of genes within an imprinted domain
Published	10/14/2024	{{c1::PWS-SRO}} prevents the paternal alleles from being silenced
Published	10/14/2024	{{c1::AS-SRO}} prevents maternal alleles from being silenced
Published	10/14/2024	PWS-SRO deletions lead to an incorrect imprint on the {{c1::paternal}} chromosome, and therefore a child with PWS, when inherited from a {{c1::male}}
Published	10/14/2024	PWS-SRO deletions are without any phenotypic effect in {{c1::female}} germ line
Published	10/14/2024	AS-SRO deletions are without any phenotypic effect in {{c1::male}} germ line
Published	10/14/2024	PWS-SRO deletions lead to an incorrect imprint on the {{c1::maternal}} chromosome, and therefore a child with AS, when inherited from a {{c1::female}}
Published	10/14/2024	Diagnosis of imprinting disorders being with {{c1::DNA methylation}} analysis. If nothing is uncovered, it moves to {{c1::oligo + SNP array}}
Status	Last Update	Fields