Beckwith-Wiedemann Syndrome bullet points.txt

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Author:
rincrocci
ID:
209549
Filename:
Beckwith-Wiedemann Syndrome bullet points.txt
Updated:
2013-03-26 00:36:16
Tags:
BWS
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Description:
BWS
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  1. beckwith-wiedemann syndrome
    • overgrowth disorder
    • pre and postnatal overgrowth
    • macroglossia
    • anterial abdominal wall defects
    • EMBRYONAL neoplasms (tumors)
  2. Gene involved with BWS
    genes within chromosome 11p15.5
  3. UPS
    • molecular genetic diagnosis of BWD
    • uniparental disomy, which occurs w
  4. Sporadic or putative imprinting
    • genetic diagnosis of BWD that can be either:
    • Loss of IGF2 and H19 hypermeth. & silencing due to defect in 11p15.5
    • LOSS of methylation at KvDMR1, LOIs in LIT1 and IGF2
  5. Purpose of study
    investigate genotype/epigenotype-phenotype correlations in 200 cases w/a confirmed MOLECULAR GENETIC DIAGNOSIS of BWS
  6. Results of study
    • It was shown that some patients with molecular characteristsics of BWS have incomplete phenotypes
    • ie hemihypertrophy and IC2 defect patients: some did not present any BWS features
    • OVERALL TUMOR RISK: highest with ICD and UPD BWS patients, lowest in MUTCDKN1C and ICD2 patients
  7. tumor targeting for kids
    if they have BWS ICD1 or UPD molecular diagnoses
  8. Screen for hepatoblastoma
    if they have BWS ICD2
  9. Takeaways and future goals
    • BWS represents a SPECTRUM of disorders.
    • Helping by IDing subtypes helps to make better prognostic predictions and enhance management and surveillence of BWS children
  10. Methods
    • PCR was used to identify sequences and determine UPD in individuals (using genotyping software)
    • Southern blotting techniques helped to ID methylation of sites (ie H19)

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