Document Detail

Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15.
MedLine Citation:
PMID:  10451515     Owner:  NLM     Status:  MEDLINE    
Supernumerary marker chromosomes (SMC) were identified in amniocytes from two unrelated fetuses. Fluorescence in situ hybridization (FISH) characterization of the SMC showed they were derived from chromosome 15; SMC(15). Parental karyotyping demonstrated the SMC(15) to be de novo in one fetus and paternally derived in the other. Previous reports showed that the presence or absence of the Prader-Willi/Angelman syndrome (PWS/AS) critical region, loci D15S11 and distal, in a SMC(15) was associated with an abnormal or normal phenotype, respectively. FISH analysis demonstrated both SMC(15) lacked the D15S11 locus. Because SMC(15) were found at an increased incidence in patients with PWS/AS, we performed methylation analysis at the SNRPN locus to exclude a deletion or uniparental disomy (UPD) of chromosome 15. Both probands showed biparental inheritance at this locus. Based on the FISH and molecular analyses, both fetuses were predicted to have a normal phenotype. The pregnancies were continued and both probands are phenotypically and developmentally normal. These cases illustrate the importance of a combination of family studies, FISH characterization and molecular analyses in SMC(15) identified prenatally. In particular, any chromosome 15 rearrangement identified at prenatal diagnosis should be considered a candidate for UPD15 studies.
P D Cotter; C T Ledesma; L G Dietz; S Pusso; M M Wohlferd; J D Goldberg
Related Documents :
8533805 - Uniparental disomy in congenital disorders: a prospective study.
9915945 - Prader-willi syndrome is caused by disruption of the snrpn gene.
17095305 - Imprinting center analysis in prader-willi and angelman syndrome patients with typical ...
8111365 - Molecular definition of the prader-willi syndrome chromosome region and orientation of ...
21225965 - Spreading chromatin into chemical biology.
17246185 - Genetic differentiation among karyotypic forms of the black rat, rattus rattus.
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  19     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1999 Aug 
Date Detail:
Created Date:  1999-11-09     Completed Date:  1999-11-09     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  721-6     Citation Subset:  IM    
Copyright Information:
Copyright 1999 John Wiley & Sons, Ltd.
Division of Medical Genetics, Children's Hospital Oakland, 747 Fifty Second Street, Oakland, CA 94609, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Aberrations / diagnosis*,  genetics
Chromosome Disorders
Chromosomes, Human, Pair 15*
In Situ Hybridization, Fluorescence
Maternal Age
Pregnancy, High-Risk

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagn...
Next Document:  Comparison of nuchal translucency measurement and second-trimester triple serum screening in twin ve...