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Prader-Willi & Angelman syndromes - Coggle Diagram
Prader-Willi & Angelman syndromes
Describe clinical features associated with Prader-Willi and Angelman syndromes
PWS
Clinical features
Neonatal hypotonia
Developmental delay
Childhood hyperphagia
Obesity
Learning difficulties
AS
Clinical features
Intellectual disability
Developmental delay
Happy
Seizures
Review genetic cause of these diseases
Contrast these syndromes in context of genetic abnormalities
Both - microdeletion of one copy of chromosome 15 at q11q13
AS
Deletion of
maternal chr 15
No UBE3A
PWS
Deletion of
paternal chr 15
Loss of SNRPN expression
Different syndromes due to differential expression genes as a result of different parental imprinting
Revise uniparental disomy
Inheritance of two homologous chromosomes from one parent
Heterodisomy
Two different homologues
Not detected by microarray
Isodisomy
Two copies of same homologue
Detected by microarray
Discuss how these conditions can be diagnosed in a diagnostic lab
MS-MLPA