Microdeletion Syndromes Flashcards
Detection method of microdeletion syndrome
FISH - Fluroescence In Site Hybridization
Microdeletions caused by
Recombination crossing-over defects during meiosis
More common microdeletion syndromes
CATCH 22, Neurofibromatosis
LEss common microdeletion syndromes
Williams, Angelman, Prader Willi
Williams syndrome mutation
Deletion on chromosome 7 of ELN gene - elastin
Williams syndrome symtpoms
Mental retardation, heart defects, unusual facial featurs
Williams syndrome behaviors
Hypersensitivity to loud noises and overly outgoing peronsalities
Facial features of Williams syndrome
Puffiness of eyes, short nose, wide mouth, full face with small chin…low nasal bridge
DiGeorge/Catch 22 symptoms
Cardiac anomalies Abnormal facies Thymic hypoplasia Cleft Palate Hypocalcemia
Plus small mouth
Catch 22 is most common associated genetic defect of
Cleft palate
Neurofibromatosis type 1 mutation
Deletion of NF1 gene on chromosome 17…codes for neurofibomin that controls RAS
Hamartoma
Focal malformation that looks like neoplasm but is benign
Prader-Willi/Angelman Syndrome causes
Prader willi - mutation on chromosome 15 of paternal
Angelman - mutation on chromosome 15 of maternal
Prader willi vs. angelman symptoms
Both have hypotonia
Prader-willi characterized by failure ot thrive initially and then obesity
Angelman characterized by chorea and unprovoked smiling and laughter
Genes for critical region for Prader willi are
Only actively transcribed on father chromosome…if only expressed on father and that section is deleted, then there will not be a maternal copy that can make up for it…same but opposite for angelman
