scholarly journals Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

2008 ◽  
Vol 11 (2) ◽  
pp. 51-58
Author(s):  
A Lungeanu ◽  
A Arghir ◽  
S Arps ◽  
G Cardos ◽  
N Dumitriu ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Ambiguous Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Chromosome Y ◽  
Y Chromosomes ◽  
New Information ◽  
Pathway Perturbation

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner SyndromeKaryotype investigations using classical cytogenetics, fluorescencein situhybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

scholarly journals Ecological interrelations of Rapana venosa (Gastropoda: Muricidae) with ichthyofauna in the Black Sea

2016 ◽  
Vol 1 (4) ◽  
pp. 76-77
Author(s):  
I. P. Bondarev
Keyword(s):  
Black Sea ◽  
Marine Ecosystem ◽  
Fish Fauna ◽  
The Black Sea ◽  
Sandy Bottom ◽  
Rapana Venosa ◽  
New Information ◽  
Bottom Zone

Systematic monitoring of ecologically significant species – predatory mollusc Rapana venosa Valenciennes, 1846 populations – is an important part of the Black Sea monitoring. The study of the role of R. venosa in contemporary marine ecosystem is of considerable interest. In June-September 2015-2016 the study of consorting relations of rapana was conducted in situ with a parallel sampling by diver. In the course of research new information about the interaction of R. venosa with the fish fauna has been obtained. Of particular importance for fishes is the presence of rapana in the sandy bottom zone, where there are no natural shelters, and food resources are limited. The most important for the fish is the presence on the rapana shells of algal fouling and epiphyton. The shells of invader – R. venosa – and its fouling create additional opportunities for the survival of some fish fauna representatives juveniles of the Black Sea. The data obtained extend the concepts of ecological role of mollusc – invader R. venosa, as well as the ecology and ethology of several fish species.

scholarly journals Occurrence of Gonadoblastoma in Females with Turner Syndrome and Y Chromosome Material: A Population Study*

2000 ◽  
Vol 85 (9) ◽  
pp. 3199-3202 ◽  
Author(s):  
Claus Højbjerg Gravholt ◽  
Jens Fedder ◽  
Rune Weis Naeraa ◽  
Jørn Müller
Keyword(s):  
Risk Factor ◽  
Turner Syndrome ◽  
Y Chromosome ◽  
Carcinoma In Situ ◽  
Dna Analysis ◽  
Epidemiological Studies ◽  
Histopathological Evaluation ◽  
Primer Sets ◽  
Chromosome Material

Abstract The presence of Y chromosome material in patients with Turner syndrome is a risk factor for the development of gonadoblastoma. However, no cases with gonadoblastoma or other ovarian malignancies have been found in epidemiological studies of cancer, morbidity, or mortality in Turner syndrome. We examined 114 females with Turner syndrome for the presence of Y chromosome material by PCR. Initially, five different primer sets were used. Y Chromosome-positive individuals were further examined with an additional four primer sets. We found 14 (12.2%; 95% confidence interval, 6.9–19.7%) patients who had Y chromosome material. The karyotype in 7 of these patients did not suggest the presence of Y chromosome material. Seven of the patients had been ovariectomized before entering the study due to verified Y chromosome material, whereas three patients were operated upon after the DNA analysis. The histopathological evaluations showed that 1 of the 10 ovariectomized patients actually had a gonadoblastoma. The rest of the patients did not have gonadoblastoma or carcinoma in situ on histopathological evaluation. Three patients (age, >50 yr) positive for Y chromosome material chose not to have ovariectomy performed, and detailed ultrasonographies did not suggest the presence of gonadoblastoma. The frequency of Y chromosome material is high in Turner syndrome (12.2%), but the occurrence of gonadoblastoma among Y-positive patients seems to be low (7–10%), and the risk may have been overestimated in previous studies, perhaps due to problems with selection bias. This study emphasizes the need for prospective unbiased studies.

scholarly journals Complex sSMC Involving X and Y Chromosomes in two Patients with 45,X/46,X,+mar Karyotype

2021 ◽  
pp. 19-23
Author(s):  
Miriam Beatriz Goulart ◽  
Monique Oliveira Freitas ◽  
Evelyn Kahn ◽  
Marilia Martins Guimarães ◽  
Isaias Soares Paiva ◽  
...  
Keyword(s):  
Cell Line ◽  
Turner Syndrome ◽  
Y Chromosome ◽  
Xist Gene ◽  
Marker Chromosomes ◽  
Y Chromosomes ◽  
Emanuel Syndrome ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from two or more different chromosomal regions and constitute one of the smallest subsets of sSMC. Most of complex sSMCs are represented by a der(22)t(11;22) in Emanuel syndrome. As far as we know, only one recent report has described sSMCs involving simultaneously X and Y chromosomes in Turner Syndrome. We report two patients, a female and a male, both with a complex sSMC derived from X and Y chromosomes in mosaic with a 45,X cell line. In both patients, the marker chromosomes were early replicating and the XIST gene was absent. FISH and PCR confirmed the presence of Yp loci (TSPY, AMGY, SRY, DYZ3), and negative for DYZ1. The DAZ4 sequence was present only in patient 1.Our findings suggested that complex sSMC involving X and Y chromosome could be a kind of sSMC of the gonosomes.

Mapping the mouse X chromosome: possible symmetry in the location of a family of sequences on the mouse X and Y chromosomes

Development ◽  
1987 ◽  
Vol 101 (Supplement) ◽  
pp. 107-116
Author(s):  
Philip Avner ◽  
Colin Bishop ◽  
Laurence Amar ◽  
Jacques Cambrou ◽  
Didier Hatat ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Y Chromosome ◽  
X Chromosome ◽  
Somatic Cell Hybrid ◽  
The Other ◽  
Interspecific Crosses ◽  
Somatic Cell Hybrid Panel ◽  
Mus Spretus ◽  
Y Chromosomes

Major advances in our knowledge of the genetic organization of the mouse X chromosome have been obtained by the use of interspecific crosses involving Mus spretus-derived strains. This system has been used to study sequences detected by three probes 80Y/B, 302Y/B and 371Y/B isolated from a mouse Y-chromosome library which have been shown to recognize both male–female common and male–female differential sequences. These patterns are due to the presence of a family of cross-reacting sequences on the mouse X and Y chromosomes. Detailed genetic analysis of the localization of the X-chromosomespecific sequences using both a somatic cell hybrid panel and an interspecific mouse cross has revealed the presence of at least three discrete clusters of loci (X–Y)A, (X–Y)B and (X–Y)C. Two of these clusters, (X–Y)B and (X–Y)C, lie distally on the mouse X chromosome, the other cluster (X–Y)A being situated close to the centromere. In situ hybridization shows a striking symmetry in the localization of the major sequences on both the X and Y chromosomes detected by these probes, hybridization being preferentially localized to a subcentromeric and subtelomeric region on each chromosome. This striking localization symmetry between the X and Y chromosome sequences is discussed in terms of the extensive pairing of the X–Y chromosomes noted during meiosis.

The Role of Genetic Mutations in Y Chromosome Infertility Syndrome

2020 ◽  
pp. 1-6
Author(s):  
Shahin Asadi
Keyword(s):  
Y Chromosome ◽  
Sperm Cell ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Genetic Material ◽  
Genetic Mutations ◽  
Sperm Cells ◽  
Sperm Production ◽  
Chromosome Y

Sex chromosome Y infertility is a genetic disorder that affects sperm production and causes affected men to become infertile. Most men with Y chromosome infertility syndrome have some sperm cells in their urine that can be extracted for this purpose. As the name implies, this type of infertility is caused by changes in the Y sex chromosome. Infertility of the Y sex chromosome is usually caused by the removal of genetic material in areas of the Y chromosome called Azosperm Factor (AZF) A, B or C. Keywords: Azosperm Factor; Oligospermia, Sperm Cell: Sex chromosome Y infertility

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome

2021 ◽  
pp. 1-9
Author(s):  
María C. Manotas ◽  
Mary García-Acero ◽  
Daniel M. González ◽  
Olga M. Moreno ◽  
Fernando Suárez-Obando ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Disorders Of Sex Development ◽  
Molecular Cytogenetics ◽  
Ambiguous Genitalia ◽  
Disorders Of Sexual Development ◽  
Sex Development ◽  
Y Chromosomes ◽  
Probable Loss ◽  
Mosaic Form ◽  
X Cells

Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.

Molecular characterization of a mouse Y chromosomal repetitive sequence amplified in distantly related species in the genus Mus

Genome ◽  
1993 ◽  
Vol 36 (3) ◽  
pp. 588-593 ◽  
Author(s):  
Yutaka Nishioka ◽  
Becky M. Dolan ◽  
Laila Zahed
Keyword(s):  
Y Chromosome ◽  
Repetitive Sequence ◽  
Chromosome Evolution ◽  
Fragment Length Polymorphism ◽  
Gc Content ◽  
Y Chromosomes ◽  
Mouse Species ◽  
Y Chromosome Evolution

This report describes a 1.1 kb long mouse Y chromosomal sequence designated 142-4. It has a 42% GC content and is rich in short direct and inverted repeats. 142-4 related sequences are repeated about 200 times in the Mus musculus Y chromosome and their distribution was visualized by in situ hybridization. 142-4 detected a restriction fragment length polymorphism that differentiated between the M. m. musculus type and the M. m. domesticus type Y chromosome. Southern blot analysis of DNAs isolated from a panel of mouse species showed that 142-4 related sequences were amplified in the Y chromosomes of M. minutoides, M. musculus, M. saxicola, M. spicilegus, and M. spretus but not in those of M. caroli, M. cookii, and M. pahari. These results suggest that 142-4 related sequences are evolutionary unstable and their accumulation patterns do not correlate with the known phylogenetic relationships of mouse species in the genus Mus.Key words: mouse Y chromosome, repetitive sequence, Mus, sequence amplification, Y chromosome evolution.

The contribution of p53 and Y chromosome long arm genes to regulation of apoptosis in mouse testis

2018 ◽  
Vol 30 (3) ◽  
pp. 469
Author(s):  
Tomasz Lech ◽  
Józefa Styrna ◽  
Katarzyna Kotarska
Keyword(s):  
Germ Cell ◽  
Y Chromosome ◽  
Cell Apoptosis ◽  
P53 Protein ◽  
Terminal Deoxynucleotidyl Transferase ◽  
Germ Cell Apoptosis ◽  
Tumour Suppressor Protein ◽  
Apoptotic Pathways

Apoptosis of excessive or defective germ cells is a natural process occurring in mammalian testes. Tumour suppressor protein p53 is involved in this process both in developing and adult male gonads. Its contribution to testicular physiology is known to be modified by genetic background. The aim of this study was to evaluate the combined influence of the p53 and Y chromosome long arm genes on male germ cell apoptosis. Knockout of the transformation related protein 53 (Trp53) gene was introduced into congenic strains: B10.BR (intact Y chromosome) and B10.BR-Ydel (Y chromosome with a deletion in the long arm). The level of apoptosis in the testes of 19-day-old and 3-month-old male mice was determined using the terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate in situ nick-end labelling (TUNEL) method. The study revealed that although p53 is involved in germ cell apoptosis in peripubertal testes, this process can also be mediated by p53-independent mechanisms. However, activation of p53-independent apoptotic pathways in the absence of the p53 protein requires engagement of the multicopy Yq genes and was not observed in gonads of B10.BR-Ydel-p53−/− males. The role of Yq genes in the regulation of testicular apoptosis seems to be restricted to the initial wave of spermatogenesis and is not evident in adult gonads. The study confirmed, instead, that p53 does participate in spontaneous apoptosis in mature testes.

scholarly journals Y chromosome in Turner syndrome: review of the literature

2009 ◽  
Vol 127 (6) ◽  
pp. 373-378 ◽  
Author(s):  
Rose Mary Rocco de Oliveira ◽  
Ieda Therezinha do Nascimento Verreschi ◽  
Monica Vannucci Nunes Lipay ◽  
Lilian Piñero Eça ◽  
Alexis Dourado Guedes ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Low Cost ◽  
Germ Cell Tumors ◽  
Common Finding ◽  
Highly Sensitive ◽  
High Incidence ◽  
Specific Sequences

Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.

Head area measurements of dead, live, X- and Y-bearing bovine spermatozoa

2004 ◽  
Vol 16 (7) ◽  
pp. 681 ◽  
Author(s):  
T. Révay ◽  
S. Nagy ◽  
A. Kovács ◽  
M. E. Edvi ◽  
A. Hidas ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Imaging System ◽  
In Situ Hybridisation ◽  
Membrane Integrity ◽  
Fluorescence In Situ Hybridisation ◽  
Y Chromosomes ◽  
Significant Difference ◽  
Bovine Spermatozoa ◽  
Head Area

The head area of bull spermatozoa was measured after viability and acrosome staining using trypan blue and Giemsa stains, followed by X- and Y-chromosome-specific fluorescence in situ hybridisation (FISH). The former staining made possible the categorisation of cells according to morphology and membrane integrity, whereas the latter allowed distinction of spermatozoa bearing X- and Y-chromosomes. Individual spermatozoa could be followed during the consecutive steps of staining, measurement and FISH. Using a high-resolution digital imaging system and measurement software, the head area of more than 3000 cells of five bulls was determined precisely. In all bulls, morphologically normal, viable cells with intact acrosomes were significantly smaller than dead cells with damaged acrosomes. No significant difference in the head area between X- and Y-chromosome-bearing viable, acrosome-intact spermatozoa was found in individual bulls. However, significant between-bull differences were detected in all cell categories.

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