Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-08-31

Study Completion Date

2014-12-31

Brief Summary

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In a retrospective study, data were assessed from cases regarding PWS/AS that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2014.

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Detailed Description

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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct syndromes of developmental impairment that result from loss of the expression of imprinted genes on the q11-q13 region of chromosome 15 (15q11-q13). Approximately 70%--75% of individuals affected with PWS and AS have an interstitial deletion of 15q11-q13. Regarding the remaining individuals with PWS, maternal uniparental disomy is the cause in 20% of cases, imprinting errors in 3% of cases, and chromosomal translocation in approximately 1% of cases. Regarding the remaining cases of AS, paternal uniparental disomy accounts for 2% of cases and mutations in the UBE3A gene for 20% of cases.The PWS/AS critical region was examined by fluorescence in situ hybridization (FISH), methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation dependent probe amplification(MS-MLPA). In a retrospective study at the National Chen-Kung University Hospital,Tainan, Taiwan, data were reviewed from cases that were referred for molecular diagnosis between January 1, 2001, and December 31, 2014.

Conditions

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Mental Disorder Fetus Disorder

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Individual with clinical features related to Prader-Willi syndrome or Angelman syndrome;
* Fetus with suspicious deletion or duplication of chromosome 15q11.2-q13 visible by the microscope;
* Fetus whose mother or father has chromosomal abnormality involving 15q11.2-q13
* Fetus with mosaic trisomy 15

Maximum Eligible Age

45 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No