Cytogenetic findings in Serbian patients with Turner's syndrome stigmata

Genetics and Molecular Research : GMR
V A DjordjevićM D Gotić


Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic. Eight patients showed non-mosaic and four patients showed mosaic structural aberrations of the X-chromosome. One non-mosaic case displayed a karyotype containing a small marker chromosome. Conventional cytogenetics was supplemented by fluorescence in situ hybridization (FISH) with an X-specific probe to identify the chromosomal origin of the ring and a 1q12-specific DNA probe to identify de novo balanced translocation (1;9) in one patient. To our knowledge, this is the first finding of karyotype 45,X,t(1;9)(cen;cen)/46,X,r(X),t(1;9)(cen;cen) in Turner's syndrome. The same X-specific probe was also used to identify a derivative chromosome in one patient.


Aug 1, 1979·Journal of Medical Genetics·I KondoH Takita
Dec 29, 1976·Human Genetics·C G Palmer, A Reichmann
Aug 1, 1992·Journal of Medical Genetics·C GicquelY Le Bouc
Aug 1, 1992·American Journal of Medical Genetics·D L Van DykeL Weiss
Dec 1, 1983·European Journal of Pediatrics·M B RankeF Majewski
Jan 1, 1983·Pediatric Research·E ParkC A Cowell
Jul 1, 1982·American Journal of Medical Genetics·F S CowchockD C Lesnick
Jun 1, 1994·Cancer Genetics and Cytogenetics·A NovakV Jurukovski
Jun 1, 1993·Journal of Medical Genetics·N R DennisP A Jacobs
Dec 1, 1995·Journal of Medical Genetics·T KuznetzovaV Baranov
Nov 5, 1999·Journal of Pediatric and Adolescent Gynecology·H A OmarK C Perkins
Sep 13, 2008·Cancer Genetics and Cytogenetics·Vesna DjordjevićMirjana Gotić

❮ Previous
Next ❯


Sep 25, 2012·Clinical Oral Investigations·Jovana JuloskiMarko Babic
Oct 14, 2011·Molecular Cytogenetics·Nanis S MarzukiAlida Harahap
Jan 17, 2019·Case Reports in Endocrinology·Hanane LatrechAhmed Gaouzi
Dec 10, 2020·Molecular Cytogenetics·Paola E LeoneCésar Paz-Y-Miño

❮ 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.

Related Papers

São Paulo Medical Journal = Revista Paulista De Medicina
Rose Mary Rocco de OliveiraBianca Bianco
The Journal of Clinical Endocrinology and Metabolism
Marsha L Davenport
Journal of Pediatric Endocrinology & Metabolism : JPEM
Bianca BiancoIeda T N Verreschi
Hormone Research in Pædiatrics
Rosa Fernandez, Eduardo Pasaro
© 2021 Meta ULC. All rights reserved