Chromosome Disorder

2020 ◽  
Author(s):  
Keyword(s):  
Chromosome Disorder

Cardiovascular Complications in Patients with Klinefelter’s Syndrome

2020 ◽  
Vol 26 (43) ◽  
pp. 5556-5563
Author(s):  
Franz Sesti ◽  
Riccardo Pofi ◽  
Carlotta Pozza ◽  
Marianna Minnetti ◽  
Daniele Gianfrilli ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Klinefelter Syndrome ◽  
Subclinical Atherosclerosis ◽  
Cardiovascular Complications ◽  
High Risk Population ◽  
Metabolic Disturbances ◽  
Future Studies ◽  
Increased Risk ◽  
Chromosome Disorder

More than 70 years have passed since the first description of Klinefelter Syndrome (KS), the most frequent chromosome disorder causing male infertility and hypogonadism. KS is associated with increased cardiovascular (CV) mortality due to several comorbidities, including hypogonadism, as well as metabolic syndrome and type 2 diabetes, which are highly prevalent in these patients. Aside from metabolic disturbances, patients with KS suffer from both acquired and congenital CV abnormalities, cerebrovascular thromboembolic disease, subclinical atherosclerosis and endothelial dysfunction, which may all contribute to increased CV mortality. The mechanisms involved in this increased risk of CV morbidity and mortality are not entirely understood. More research is needed to better characterise the CV manifestations, elucidate the pathophysiological mechanisms and define the contribution of testosterone replacement to restoring CV health in KS patients. This review explores the complex association between KS, metabolic syndrome and CV risk in order to plan future studies and improve strategies to reduce mortality in this high-risk population.

scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

Fire-Setting Behavior in Individuals With Klinefelter Syndrome

PEDIATRICS ◽  
1988 ◽  
Vol 82 (1) ◽  
pp. 115-117
Author(s):  
MARVIN E. MILLER ◽  
STEPHEN SULKES
Keyword(s):  
Criminal Behavior ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Mental Deficiency ◽  
The Other ◽  
Sexual Deviation ◽  
Reactive Depression ◽  
Y Chromosomes ◽  
Psychiatric Problems ◽  
Chromosome Disorder

Klinefelter syndrome is a sex chromosome disorder with an incidence of approximately two per 1,000 male newborns.1 Eighty percent of individuals with Klinefelter syndrome are 47,XXY, whereas the other 20% have a variant sex chromosomal constitution with additional supernumerary X or Y chromosomes (ie, 48,XXXY, 48XXYY) or are mosaic.2 Individuals with Klinefelter syndrome have small testes which usually cannot produce sperm or normal amounts of testosterone. The results of this are infertility and undermasculinization. Behavioral and psychiatric problems are also common in individuals with Klinefelter syndrome and include personality disorder, reactive depression, schizophrenia, mental deficiency, sexual deviation, criminal behavior, and alcoholism.3

Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years

2017 ◽  
Vol 30 (7) ◽  
Author(s):  
Jessica D. Arditi ◽  
Loretta Thomaidis ◽  
Helen Frysira ◽  
Artemis Doulgeraki ◽  
George P. Chrousos ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
De Novo ◽  
Klinefelter Syndrome ◽  
Pubertal Development ◽  
Pediatric Endocrinology ◽  
Case Presentation ◽  
Long Term Follow Up ◽  
Chromosome Disorder

AbstractBackground:Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood.Case presentation:We report a male patient with ACH and KS, diagnosed in early infancy because of his typical phenotype of ACH. The diagnosis was confirmed by molecular analysis revealing a de novo heterozygous 1138 G-to-A mutation of theConclusions:This is the first reported case with both conditions that was diagnosed in infancy and was longitudinally followed by a pediatric endocrinology team regularly, from infancy to late adolescence. With a typical phenotype of ACH, it is striking and noteworthy that he did not develop the classical endocrine complications of a child with KS, neither did he necessitate testosterone supplementation during his pubertal development, due to his normal virilization and testosterone levels.

scholarly journals Severe Arterial Thrombophilia Associated With a Homozygous MTHFR Gene Mutation (A1298C) in a Young Man With Klinefelter Syndrome

2008 ◽  
Vol 14 (3) ◽  
pp. 369-371 ◽  
Author(s):  
Mustafa Ozbek ◽  
M. Akif Öztürk ◽  
Kemal Ureten ◽  
Ozcan Ceneli ◽  
Mehmet Erdogan ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Methylenetetrahydrofolate Reductase ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Case Reports ◽  
Mthfr Gene ◽  
Testosterone Replacement Therapy ◽  
Increased Risk ◽  
A1298c Mutation ◽  
Chromosome Disorder

Klinefelter syndrome (KS) is the most common sex chromosome disorder in men. It may be associated with an increased risk for venous thrombosis and thromboembolism, which is partially explained by hypofibrinolysis due to androgen deficiency. Additional genetic or acquired thrombophilic states have been shown in KS patients complicated with venous thrombosis as isolated case reports. Arterial thrombotic events had not been previously reported in KS. In this study, a young man with KS who developed acute arterial thrombosis during testosterone replacement therapy is presented. He was homozygous for the A1298C mutation of the methylenetetrahydrofolate reductase (MTHFR) gene.

scholarly journals A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Dev R. Sahni ◽  
Michael Wallace ◽  
Mansi Kanhere ◽  
Hind Al Saif ◽  
Natario Couser
Keyword(s):  
Turner Syndrome ◽  
Sex Chromosome ◽  
Anterior Segment ◽  
Clinical Manifestations ◽  
Morning Glory ◽  
Structural Abnormality ◽  
Partial Loss ◽  
Rare Presentation ◽  
Morning Glory Disc Anomaly ◽  
Chromosome Disorder

Turner syndrome is a common sex chromosome disorder affecting females. The disorder is caused by a partial loss, complete absence, or structural abnormality of one X chromosome. The clinical presentation is broad and ranges from the classic phenotype to minimal clinical manifestations. Ocular abnormalities associated with the syndrome are common. Reports describing abnormal eye features in individuals with Turner syndrome generally involve refractive errors (myopia or hyperopia), strabismus, and external or anterior segment abnormalities including hypertelorism, epicanthal folds, and ptosis. Posterior ocular segment anomalies involving the optic nerve and retina in Turner syndrome have been rarely reported. We report a rare presentation of an 11-year-old female with Turner syndrome and unilateral morning glory disc anomaly.

scholarly journals Parents' Behavior Related to Caries Status of Children with Down Syndrome in Surabaya

2021 ◽  
Vol 55 (8) ◽  
Author(s):  
Tania Saskianti ◽  
Ardianti Maartrina Dewi ◽  
Nur Masyitah Iskandar Putri ◽  
Andi Octafianto
Keyword(s):  
Down Syndrome ◽  
Cross Sectional Study ◽  
Chromosome 21 ◽  
Enabling Factors ◽  
Cross Sectional ◽  
Children With Down Syndrome ◽  
Reinforcing Factors ◽  
Spearman’S Correlation ◽  
Very High ◽  
Chromosome Disorder

Background. Down syndrome (DS) is a chromosome disorder due to the presence of all or part of a third copy of chromosome 21 (trisomy 21) caused by a failure in chromosome segregation. Following Riset Kesehatan Dasar (RISKESDAS) in 2013, the number of people with DS in Indonesia increased compared to 2010, with an estimated 924 children with DS in Surabaya. Data regarding caries status in children with DS in Surabaya is limited. Objective. To evaluate parents’ behavior (predisposing, enabling, and reinforcing factors) related to the caries status of children with DS. Methods. This observational analytic cross-sectional study included children aged ≤18 years with DS and parents who were members of the Parents' Association of Children with Down Syndrome (POTADS). Caries status were measured using the DMF-T/def-t score, and parents were asked to fill out a questionnaire. Data were analyzed using Spearman’s correlation test. Result. We included 46 children with DS in this study. The DMF-t / def-t index of children with DS (7.2) was categorized as very high according to WHO. There was a significant relationship between lack of knowledge of parents and caries status in children with DS. Enabling factors and reinforcing factors were not significantly correlated with caries status. Conclusion. Parents' behavior is correlated with the caries status of children with DS. All combination of three factors behavior, including predisposing, enabling and reinforcing, are needed to reduce the number of caries in children with DS.

scholarly journals Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Hanane Latrech ◽  
Houssein Madar ◽  
Ahmed Gaouzi
Keyword(s):  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Clinical Presentation ◽  
Sex Chromosome ◽  
De Novo ◽  
First Case ◽  
Chromosome Disorder ◽  
De Novo Translocation

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

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