| Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15. | |
| | |
MedLine Citation:
|
PMID: 9061757 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Chorionic villus sampling (CVS) was performed on a 38-year-old woman at 10 weeks' gestation for advanced maternal age. Two long-term cultures showed true mosaicism of cells with a normal karyotype and cells with trisomy 15. Follow-up amniocentesis showed only cells with a normal karyotype. Methylation analysis of amniocyte DNA using the probe PW71B showed a result consistent with a diagnosis of Prader-Willi syndrome. This result was confirmed using dinucleotide microsatellite polymorphism analysis, which showed that the fetus had maternal uniparental heterodisomy for chromosome 15. This report describes the use of methylation analysis for prenatal diagnosis of uniparental disomy 15 but also indicates that there is some doubt regarding the methylation status of all amniocyte samples, as one of nine controls showed hypomethylation. Fetal skin was found to show low-level mosaicism for trisomy 15, indicating a prolonged persistence of mosaic trisomy 15, which raises questions regarding the management of pregnancies found to be mosaic for trisomy 15. |
| | |
Authors:
|
H R Slater; C Vaux; M Pertile; T Burgess; V Petrovic |
Related Documents
:
|
9650767 - Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature. 1589417 - Apparent non-mosaic trisomy 16 in chorionic villi: diagnostic dilemma or clinically sig... 19776597 - First-trimester uterine artery doppler and serum pregnancy-associated plasma protein-a ... 1870817 - Transvaginal sonographic follow-up on the formation of fetal cephalocele at 13-19 weeks... 6841417 - Iatrogenic lesions of the upper airway in the newborn. 17712787 - Stature and sexual stature dimorphism in sweden, from the 10th to the end of the 20th c... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Prenatal diagnosis Volume: 17 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1997 Feb |
Date Detail:
|
Created Date: 1997-05-15 Completed Date: 1997-05-15 Revised Date: 2004-11-18 |
Medline Journal Info:
|
Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
|
Languages: eng Pagination: 109-13 Citation Subset: IM |
Affiliation:
|
VCGS Cytogenetics Laboratory, Royal Children's Hospital, Parkville, Australia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Amniocentesis Chorionic Villi Sampling Chromosomes, Human, Pair 15* DNA Methylation* Female Humans Karyotyping Maternal Age Mosaicism Prader-Willi Syndrome / diagnosis*, genetics* Pregnancy Pregnancy, High-Risk Prenatal Diagnosis* Trisomy* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Schwangerschaftsprotein 1 (SP1) as a maternal serum marker for Down syndrome in the first and second...
Next Document: Probability tables for exclusion of mosaicism in prenatal diagnosis.