scholarly journals Violent behaviors and Klinefelter syndrome: Two forensic cases from the past to the future / Comportamenti violenti e sindrome di Klinefelter: Due casi forensi dal passato al futuro / Comportamientos violentos y síndrome de Klinefelter: Dos casos forenses del pasado al futuro

2019 ◽  
Author(s):  
Isabella Aquila ◽  
Matteo Antonio Sacco ◽  
Carmen Scalise ◽  
Salvatore Savastano ◽  
Irene Iezzi ◽  
...  
Keyword(s):  
Language Learning ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Psychosocial Problems ◽  
Sexual Disorders ◽  
Post Mortem ◽  
Personal Story ◽  
Sindrome Di Klinefelter ◽  
Criminal Personality

Klinefelter Syndrome (KS) (XXY) is the most common sex-chromosome aberration among men. The cognitive phenotype includes language learning problems, mental retardation, and psychiatric disorders. Patients can show criminal personality and psychosocial problems. The most common offences reported are sexual abuse, arson, burglary, homicide, drug-related crimes. KS very often goes under-diagnosed. The aim of our study is to verify the hypothesis of correlation between chromosomal abnormalities and criminal behaviors through the analysis of a forensic case of uxoricide/suicide. We report the case of an old man, found dead in his cottage with a gun in the right hand. Judicial inspection demonstrated suicidal single gunshot injuries. Data analysis highlighted a personal story of uxoricide. Autopsy investigation showed the typical KS phenotype. The post-mortem clinical diagnosis was confirmed through the genetic analysis of the karyotype. The retrospective analysis of literature with this case showed a possible correlation between KS and psychiatric traits, with criminal personality and sexual disorders. RiassuntoLa Sindrome di Klinefelter (KS) (XXY) è l'aberrazione cromosomica più comune tra gli uomini. Il fenotipo cognitivo include problemi di apprendimento linguistico, ritardo mentale e disturbi psichiatrici. I pazienti possono mostrare personalità criminale e problemi psicosociali. I reati più comuni riportati sono abusi sessuali, incendio doloso, furto con scasso, omicidio, reati connessi alla droga. KS molto spesso va sotto-diagnosticato. Lo scopo del nostro studio è verificare l'ipotesi di correlazione tra anomalie cromosomiche e comportamenti criminali attraverso l'analisi di un caso forense di uxoricide / suicidio. Riportiamo il caso di un vecchio, trovato morto nella sua casetta con una pistola nella mano destra. Ispezioni giudiziarie hanno dimostrato lesioni suicide con singolo colpo d'arma da fuoco. L'analisi dei dati ha evidenziato una storia personale di uxoricide. L'indagine dell'autopsia ha mostrato il tipico fenotipo KS. La diagnosi clinica post-mortem è stata confermata attraverso l'analisi genetica del cariotipo. L'analisi retrospettiva della letteratura con questo caso ha mostrato una possibile correlazione tra KS e tratti psichiatrici, con personalità criminale e disturbi sessuali. ResumenEl síndrome de Klinefelter (KS) (XXY) es la aberración de cromosomas sexuales más común entre los hombres. El fenotipo cognitivo incluye problemas de aprendizaje del lenguaje, retraso mental y trastornos psiquiátricos. Los pacientes pueden mostrar personalidad criminal y problemas psicosociales. Los delitos más comunes reportados son abuso sexual, incendio premeditado, robo, homicidio, delitos relacionados con drogas. KS muy a menudo va bajo diagnosticado. El objetivo de nuestro estudio es verificar la hipótesis de correlación entre las anomalías cromosómicas y las conductas delictivas mediante el análisis de un caso forense de uxoricida / suicidio. Informamos el caso de un anciano, encontrado muerto en su casa con un arma en la mano derecha. La inspección judicial demostró lesiones suicidas con un solo disparo. El análisis de datos resaltó una historia personal de uxoricidio. La investigación autopsia mostró el fenotipo típico de KS. El diagnóstico clínico post mortem se confirmó mediante el análisis genético del cariotipo. El análisis retrospectivo de la literatura con este caso mostró una posible correlación entre el SK y los rasgos psiquiátricos, con personalidad criminal y trastornos sexuales.

scholarly journals Study on clinical and genetic characteristics of male patients with non-obstructive azoospermia

2021 ◽  
Vol 141 (5) ◽  
pp. 39-45
Author(s):  
Nguyen Hoai Bac ◽  
Hoang Long
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Obstructive Azoospermia ◽  
Genetic Characteristics ◽  
Azfc Deletion ◽  
Genetic Abnormalities ◽  
History Of ◽  
Male Patients ◽  
Infertile Patients

We examined 501 patients with non - obstructive azoospermia to evaluate clinical, subclinical, and genetic characteristics. The results show that the average age of patients in the study was 29.8 ± 5.5 years. Primary infertility accounts for the majority, with a rate of 90.3%. There was 38.6% of patients had a history of mumps orchitis. The average levels of FSH, LH, testosterone were 31.6 ± 16.5 mIU/mL, 15.5 ± 10 mIU/mL and 12.8 ± 7.13 nmol/L, respectively. The prevalence of chromosomal abnormalities was 30.7%. Of these, the sex chromosome aneuploidy with 47,XXY karyotype (Klinefelter syndrome) accounted for 27.3%. The incidence of AZF microdeletion was 13.8%. Of these, AZFc deletion was the most common at the rate of 42.1%, AZFa deletion, which accounted for 2.6%, were the least prevalent, and the frequency of AZFd deletion was 5.3%. However, there was no solitary AZFb deletion, which combined with other AZF deletions with 34.2%. Our research shows that mumps orchitis and chromosomal abnormalities are the leading causes of azoospermia. Screening for genetic abnormalities plays an important role in infertile patients with non - obstructive azoospermia.

scholarly journals Cytogenetic findings in Serbian patients with Klinefelter syndrome

Genetika ◽  
2020 ◽  
Vol 52 (1) ◽  
pp. 97-105
Author(s):  
Vesna Djordjevic ◽  
Zvezdana Jemuovic ◽  
Sandra Pekic ◽  
Marina Djurovic
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Standard Procedure ◽  
Fish Analysis ◽  
Alpha Satellite Dna ◽  
Y Chromosomes ◽  
Standard Karyotype ◽  
Blood Specimens ◽  
Mosaic Karyotype

Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans (1/600 newborn males). The most widespread karyotype in affected patients is 47,XXY, but various others have been described. The aim of this study was to examine the karyotypes of a group of patients suspected of having Klinefelter's syndrome. Between January 1993 and April 2018 104 adult KS patients were evaluated. Cytogenetic analysis was carried out on metaphases obtained from phytohemagglutinin-stimulated peripheral lymphocytes using a standard procedure. Fluorescence in situ hybridization (FISH) analysis was performed on peripheral blood specimens. Vysis CEP X/Y- alpha satellite DNA probes were used to detect X and Y chromosomes. We identified KS presenting the ?standard? or 47,XXY karyotype in eighty three (80%) patients, while five (5%) KS patients showed the mosaic karyotype 47,XXY/46,XY and three (3%) patients had the mosaic karyotype 47,XXY/46,XX. In six (6%) cases KS patients with the ?standard? karyotype also had autosomal chromosomal abnormalities, while numerical sex chromosome abnormalities, with karyotypes 48,XXYY occurred in two (2%) subjects, 47,XYY in three (3%) and 47,XYY/46,XY in two (2%) individuals. Thus, most of our KS patients had the 'standard', 47,XXY karyotype, but some men formed a group of patients with a diversity of other karyotypes. These disparate chromosomal variants may have different physical and mental implications for the general symptomatology of KS. Therefore, it is important to determine the nature of the karyotype of every male with clinical characteristics of KS in very early childhood in order to initiate an adequate, personalized, medical approach.

scholarly journals Хромосомні аномалії у чоловіків із різним ступенем порушення сперматогенезу

2013 ◽  
Vol 4 (1) ◽  
pp. 14-22 ◽  
Author(s):  
L. Y. Pylyp ◽  
L. A. Spinenko ◽  
V. D. Zukin ◽  
N. M. Bilko
Keyword(s):  
Assisted Reproductive Technologies ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Sperm Count ◽  
Reproductive Technologies ◽  
Chromosomal Mosaicism ◽  
Male Factor ◽  
Increased Risk ◽  
Cytogenetic Studies

Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6%) patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19), followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9). The frequency of inversions was 0.6% (n = 4). Gonosomal abnormalities included 14 cases of sex chromosome aneuploidy and 2 cases of terminal deletion of Y chromosome. Klinefelter syndrome was detected in 67% of patients with azoospermia. A significant increase in the frequency of numerical chromosomal abnormalities was observed in a group of patients with azoospermia (P < 0.001). No differences were detected in the frequency of structural abnormalities in subgroups of patients. An increase in the frequency of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected with frequency 1.1% in a group of patients with normospermia, 1.9% in a group of patients with asthenozoospermia, 4.3% in patients with asthenoteratozoospermia, 6.5% in patients with oligoasthenozoospermia, 11.6% in patients with oligoasthenoteratozoospermia and 35% in a group of patients with azoospermia. Significant increase of the prevalence of chromosomal abnormalities was detected in subgroups of patients with azoospermia (P < 0.001) and oligozoospermia (P = 0.001) as compared to patients with normozoospermia. These results are considered to be criteria for selection of patients in need of cytogenetic studies before in vitro fertilization cycles because of the highest risk of chromosomal abnormalities detection. 

scholarly journals Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 478
Author(s):  
Yunli Lai ◽  
Xiaofan Zhu ◽  
Sheng He ◽  
Zirui Dong ◽  
Yanqing Tang ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Read Depth ◽  
Trisomy 13 ◽  
Prognostic Information ◽  
Aneuploidy Screening ◽  
Predictive Values ◽  
Risk Result

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information.

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

scholarly journals DNA methylation-based sex classifier to predict sex and identify sex chromosome aneuploidy

2020 ◽  
Author(s):  
Yucheng Wang ◽  
Eilis Hannon ◽  
Olivia A Grant ◽  
Tyler J Gorrie-Stone ◽  
Meena Kumari ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Association Studies ◽  
Gene Expression Omnibus ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy ◽  
Wide Range ◽  
Almost All ◽  
Methylation Patterns

AbstractSex is an important covariate of epigenome-wide association studies due to its strong influence on DNA methylation patterns across numerous genomic positions. Nevertheless, many samples on the Gene Expression Omnibus (GEO) frequently lack a sex annotation or are incorrectly labelled. Considering the influence that sex imposes on DNA methylation patterns, it is necessary to ensure that methods for filtering poor samples and checking of sex assignment are accurate and widely applicable. In this paper, we presented a novel method to predict sex using only DNA methylation density signals, which can be readily applied to almost all DNA methylation datasets of different formats (raw IDATs or text files with only density signals) uploaded to GEO. We identified 4345 significantly (p < 0.01) sex-associated CpG sites present on both 450K and EPIC arrays, and constructed a sex classifier based on the two first components of PCAs from the two sex chromosomes. The proposed method is constructed using whole blood samples and exhibits good performance across a wide range of tissues. We further demonstrated that our method can be used to identify samples with sex chromosome aneuploidy, this function is validated by five Turner syndrome cases and one Klinefelter syndrome case. The proposed method has been integrated into the wateRmelon Bioconductor package.

Klinefelter Syndrome

2010 ◽  
Author(s):  
Christine M. Temple
Keyword(s):  
Developmental Disorders ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Group Analysis ◽  
Average Height ◽  
Body Hair ◽  
The United Kingdom ◽  
Chromosomal Disorder ◽  
Arm Span ◽  
Sex Chromosome Abnormalities

Klinefelter syndrome (KS) was first identified by Dr. Harry Klinefelter in 1942 (Klinefelter, Reifenstein, and Albright 1942) in a report of nine tall men with hypogonadism, sparse body hair, gynecomastia, and infertility. The associated chromosome disorder 47XXY was identified several years later (Jacobs and Strong 1959). The full phenotype consists of hypogonadism, low testosterone levels, infertility, gynecomastia, sparse body hair, eunuchoid body habitus, long legs and arm span, and above-average height. However, except for hypogonadism (small testes), which is present in nearly all individuals with XXY, the physical phenotype may be quite variable. In live-born males, KS has an incidence of 1:500 to 1:1,000 (Bojesen, Juul, and Gravholt 2003; Hamerton, Canning, Ray, and Smith 1975; Ratcliffe, Bancroft, Axworthy, and McLaren 1982; Rovet, Netley, Keenan, Bailey, and Stewart 1996), with a further incidence of 1:300 in spontaneous abortions (Hassold and Jacobs 1984). Klinefelter syndrome is the most common of the sex chromosome abnormalities and the second most common chromosomal disorder after Down syndrome. The possibility that incidence is increasing has also been raised (Morris, Alberman, Scott, and Jacobs 2008). Despite this, possibly as a consequence of poor identification, the syndrome has been studied less extensively than, for example, Turner syndrome (45XO) and many other developmental disorders. Boys with KS are generally tall and long-limbed but with increasing height in the population, these characteristics alone are not necessarily distinguishing. Individuals with KS are generally not immediately identifiable, and many cases of KS remain unidentified throughout life. Up to two-thirds of cases may never be identified clinically (Lanfranco, Kamischke, Zitzmann, and Nieschlag 2004). There is no clearly identifiable facial appearance, although mandibular prognathism (a prominent lower jaw and extended chin) is reported on group analysis using radiographic cephalometry (Brown, Alvesalo, and Townsend 1993). Increased genetic screening now means that 10% of cases in the United Kingdom are diagnosed prenatally on the basis of karyotype, with a further 25% of cases diagnosed during childhood (Abramsky and Chapple 1997). However, this means that 65% of cases reach puberty undiagnosed. In Belgium, fewer than 10% of expected cases are diagnosed before puberty (Bojesen et al. 2003).

scholarly journals A-58 Rare Case of Klinefelter Syndrome with 13/14 Balanced Translocation and Absence Epilepsy: Impact of Combined Genotypes on Cognitive Neuropsychological Phenotype

2019 ◽  
Vol 34 (6) ◽  
pp. 918-918
Author(s):  
S Shagalow ◽  
R Facchini ◽  
D Masur ◽  
E Weiss ◽  
S Schneider ◽  
...  
Keyword(s):  
Motor Coordination ◽  
Sex Chromosome ◽  
De Novo ◽  
Klinefelter Syndrome ◽  
Chromosome Rearrangement ◽  
Receptive Language ◽  
Absence Epilepsy ◽  
Language Therapy ◽  
Balanced Translocation ◽  
Increased Risk

Abstract Objective Klinefelter syndrome (KS) and Robertsonian translocation of 13/14 [rob t(13;14)] are the most common sex-chromosome disorder and chromosome rearrangement, respectively (Engels et al., 2008; Skakkebæk, Wallentin, & Gravholt, 2015). Both are associated with increased risk of cognitive/intellectual disability (ID). A case of KS and de novo (i.e., unbalanced) rob t(13;14) was previously reported (Gül & Şayli, 1994). A case of KS with balanced rob t(13;14) and well-controlled generalized absence epilepsy will be presented with consideration for pediatric neuropsychological practice. Method Neuropsychological evaluation of a 12-year-old, right-handed boy diagnosed with comorbid KS, rob t(13;14), and generalized absence epilepsy. Particular attention was given to language given his KS diagnosis. The patient is in a 12:1:1 self-contained classroom with speech-language therapy and social skills groups in place. The patient’s mother is confirmed to have rob t(13;14), whereas paternal contribution is unknown. Results Adolescent with a history of language difficulties, especially comprehension. Recent school-based WISC-V FSIQ was in the extremely low range (SS = 53), with weaker verbal comprehension and working memory. Academic achievement was globally very low. Expressive and receptive language, visual perception and motor coordination were extremely low to low average. Verbal list learning and visual attention were near average to average. Conclusions This case contributes to the very limited body of pediatric neuropsychological data on the combined genotype of KS with rob t(13;14) and absence epilepsy. Both the KS and rob t(13;14) cognitive phenotypes have been characterized as highly variable, with the comorbidity a likely increased risk for ID.

scholarly journals Chromosomal abnormalities and atrial fibrillation and ischemic stroke incidence: a nationwide population-based study

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Jun Hwan Cho ◽  
Eue-Keun Choi ◽  
In-Ki Moon ◽  
Jin- Hyung Jung ◽  
Kyung-Do Han ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Down Syndrome ◽  
Ischemic Stroke ◽  
Turner Syndrome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Control Group ◽  
Stroke Incidence ◽  
Cox Regression Analysis ◽  
Increased Risk

Abstract There is a paucity of information as to whether chromosomal abnormalities, including Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, have an association with atrial fibrillation (AF) and ischemic stroke development. Data from 3660 patients with Down Syndrome, 2408 with Turner Syndrome, and 851 with Klinefelter Syndrome without a history of AF and ischemic stroke were collected from the Korean National Health Insurance Service (2007–2014). These patients were followed-up for new-onset AF and ischemic stroke. Age- and sex-matched control subjects (at a ratio of 1:10) were selected and compared with the patients with chromosomal abnormalities. Down Syndrome patients showed a higher incidence of AF and ischemic stroke than controls. Turner Syndrome and Klinefelter Syndrome patients showed a higher incidence of AF than did the control group, but not of stroke. Multivariate Cox regression analysis revealed that three chromosomal abnormalities were independent risk factors for AF, and Down Syndrome was independently associated with the risk of stroke. In conclusion, Down Syndrome, Turner Syndrome, and Klinefelter Syndrome showed an increased risk of AF. Down Syndrome patients only showed an increased risk of stroke. Therefore, AF surveillance and active stroke prevention would be beneficial in patients with these chromosomal abnormalities.

scholarly journals Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Simona Baronchelli ◽  
Donatella Conconi ◽  
Elena Panzeri ◽  
Angela Bentivegna ◽  
Serena Redaelli ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Ovarian Function ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Population Group ◽  
Ovarian Failure ◽  
Chromosome Mosaicism ◽  
Low Level

The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.

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