PMID: 11840486Feb 13, 2002Paper

Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method

American Journal of Medical Genetics
Mirian Y NishiAna Elisa C Billerbeck


The incidence of Y chromosome sequences in patients with Turner syndrome has been evaluated in several studies, and its frequency varied from 0% to 61%, depending on the molecular methodology used. The aim of our study was to screen for Y chromosome sequences in 122 patients with Turner syndrome without cytogenetic evidence of this chromosome. DNA of 100 normal women was also screened and it was used as a negative control. To identify cryptic Y mosaicism, eight regions of Y chromosome were amplified by PCR. In order to increase the sensitivity of Y sequence detection, a nested PCR of the SRY and TSPY genes was also performed. All patients had several stigmata of Turner syndrome and none of them presented with signs of virilization. The most frequent karyotype was 45,X (54.1%), followed by mosaicism involving structural aberration of the X chromosome. There were 12 patients who carried a marker or ring chromosome. First-round PCR identified Y chromosome sequences in only four patients (3%), and all of them had a chromosome mosaicism with at least one cell lineage with a marker chromosome. After nested PCR, 25% of the patients and 14% of the normal women were positive for the presence of Y sequences. Contamination with extraneous...Continue Reading


Feb 1, 1992·Human Genetics·J R HawkinsP N Goodfellow
Jul 1, 1990·Annals of Human Genetics·P A JacobsS A Youings
Apr 12, 1990·Nature·N EllisP Goodfellow
Oct 1, 1989·American Journal of Medical Genetics·H Ostrer, C M Clayton
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Apr 1, 1987·Cancer Genetics and Cytogenetics·M S Verp, J L Simpson
Jun 1, 1970·Cancer·R E Scully
Jul 1, 1995·Journal of Medical Genetics·C E ChuS A Greene
Jul 3, 1995·American Journal of Medical Genetics·E CotoC López-Larrea
Dec 1, 1995·The Journal of Clinical Endocrinology and Metabolism·G BinderM B Ranke
Jan 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·D W BianchiM A DeMaria
Nov 1, 1995·Genes, Chromosomes & Cancer·P SaloA de la Chapelle
Dec 1, 1995·Journal of Medical Genetics·T KuznetzovaV Baranov
Jan 1, 1997·Human Genetics·T YorifujiK Furusho
Jul 11, 1997·American Journal of Medical Genetics·S SchwartzJ L Zackowski
Mar 25, 1998·American Journal of Medical Genetics·M LópezS Kofman-Alfaro
Mar 26, 1999·American Journal of Human Genetics·Y F Lau
Dec 30, 1999·Journal of Pediatric Endocrinology & Metabolism : JPEM·D DamianiN Setian

❮ Previous
Next ❯


Sep 17, 2004·The New England Journal of Medicine·Virginia P Sybert, Elizabeth McCauley
Jan 19, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Daynna J WolffUNKNOWN Working Group of the ACMG Laboratory Quality Assurance Committee
Apr 9, 2008·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·T LiehrA Weise
Mar 10, 2007·The Tohoku Journal of Experimental Medicine·C Nur SemerciHuseyin Bagci
Oct 2, 2012·Fertility and Sterility·Quincy Zhong, Lawrence C Layman
Nov 10, 2004·Fertility and Sterility·Paul G McDonough
Feb 26, 2008·Fertility and Sterility·Bianca BiancoIeda T N Verreschi
Jun 1, 2010·São Paulo Medical Journal = Revista Paulista De Medicina·Rose Mary Rocco de OliveiraBianca Bianco
Sep 10, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anne Wiktor, Daniel L Van Dyke
Sep 21, 2004·American Journal of Medical Genetics. Part a·Ana Karina BartmannReginaldo A Vila
Oct 26, 2002·American Journal of Medical Genetics·Judith G Hall
Oct 10, 2006·Prenatal Diagnosis·Pietro CavalliCarlo Poggiani
Mar 5, 2005·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·L-C HornS Jakubiczka
May 10, 2005·American Journal of Medical Genetics. Part a·Laura MazzantiEmanuele Cacciari
Sep 15, 2005·American Journal of Medical Genetics. Part a·Anne E Wiktor, Daniel L Van Dyke
Jun 1, 2006·Endocrine Reviews·Martine CoolsLeendert H J Looijenga
Nov 11, 2014·Journal of Pediatric Endocrinology & Metabolism : JPEM·Sarar MohamedHilary M C V Hoey
Jul 25, 2012·Oncology Reports·Elva I Cortés-GutiérrezJuana B Romero-Villarreal
Oct 9, 2014·Reproduction, Fertility, and Development·Adriana Valéria Sales BispoNeide Santos

❮ Previous
Next ❯

Related Concepts

Trending Feeds


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 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.


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.