PMID: 9138157Apr 1, 1997Paper

Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis

Journal of Medical Genetics
K DevriendtJ P Fryns

Abstract

A 3.3 year old girl with Prader-Willi syndrome (PWS) and mosaicism for two aneuploidies, 47,XXX and 47,XX,+15, is presented. The triplo-X cell line was found in white blood cells and fibroblasts, the trisomy 15 cell line in 50% of the fibroblasts. Using methylation studies of the PWS critical region and by polymorphic microsatellite analysis, the existence of uniparental maternal heterodisomy for chromosome 15 was shown in white blood cells. This provided a molecular explanation for the PWS in this child. In fibrolasts, an additional paternal allele was detected for markers on chromosome 15, which is in agreement with the presence of mosaicism for trisomy 15 in these cells. This example provides direct evidence for trisomic rescue by reduction to disomy as a possible basis for PWS. Whereas the trisomy 15 was caused by a maternal meiosis I error, the triplo-X resulted from a postzygotic gain of a maternal X chromosome, as shown by the finding of two identical maternal X chromosomes in the 47,XXX cell line. Because the triplo-X and the trisomy 15 were present in different cell lines, gain of an X chromosome occurred either in the same cell division as the trisomy 15 rescue or shortly before or after.

References

Oct 1, 1992·Journal of Medical Genetics·L R WillattM E Ferguson-Smith
Feb 5, 1981·The New England Journal of Medicine·D H LedbetterJ D Crawford
Aug 1, 1995·Prenatal Diagnosis·A WebbJ Goodship
Aug 1, 1994·Prenatal Diagnosis·J VaughanG Moore
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Jul 1, 1993·American Journal of Medical Genetics·E Engel
Apr 1, 1993·Prenatal Diagnosis·N Morichon-DelvallezM Vekemans
Apr 1, 1996·Prenatal Diagnosis·S L ChristianD H Ledbetter
Jan 22, 1996·American Journal of Medical Genetics·J M MilunskyA Milunsky

❮ Previous
Next ❯

Citations

Jul 17, 1998·Prenatal Diagnosis·I J Barrett, D K Kalousek
Sep 15, 2000·European Journal of Obstetrics, Gynecology, and Reproductive Biology·K Devriendt
Mar 14, 2007·Clinical Dysmorphology·Pradeep C Vasudevan, Oliver W J Quarrell
Sep 17, 2005·Journal of Autism and Developmental Disorders·Z TalebizadehM G Butler
Sep 19, 2015·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Dec 12, 2012·American Journal of Medical Genetics. Part a·Kosuke IzumiLaura K Conlin
Nov 6, 2001·Annales de génétique·M Gérard-BlanluetJ C Janaud
Apr 6, 2002·Annales de génétique·Annick VogelsKoen Devriendt
Jun 26, 2015·American Journal of Medical Genetics. Part a·Anita MorandiClaudio Maffeis
Feb 3, 2004·American Journal of Medical Genetics. Part a·Małgorzata J M NowaczykDonald T Whelan
Apr 2, 2004·American Journal of Medical Genetics. Part a·Michael SchneiderVirginia Kimonis
Feb 19, 2002·Oncogene·Kathleen Collins, James R Mitchell
Dec 8, 1998·American Journal of Medical Genetics·C A Stratakis
Sep 1, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Roshanak MonzaviPisit Pitukcheewanont

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.