scholarly journals Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Sefa Resim ◽  
Faruk Kucukdurmaz ◽  
Nazım Kankılıc ◽  
Ozlem Altunoren ◽  
Erkan Efe ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Semen Analysis ◽  
Genetic Diagnosis ◽  
Psychomotor Retardation ◽  
Tall Stature ◽  
X Chromosomes ◽  
Y Chromosomes ◽  
The Right ◽  
Hormonal Evaluation

Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.

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 MON-254 Sympromic Hypogonadism: Co- Existence of Morsier and Klinefelter Syndromes

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fabiola romero ◽  
Sady Arzamendia ◽  
Dahiana Ferreira ◽  
Claudia Neves de Souza ◽  
Helen Lopez ◽  
...  
Keyword(s):  
Klinefelter Syndrome ◽  
External Genitalia ◽  
Psychomotor Retardation ◽  
Septum Pellucidum ◽  
Lower Limbs ◽  
Hormone Deficiency ◽  
Tall Stature ◽  
Male Hypogonadism ◽  
Optic Chiasma ◽  
First Case

Abstract INTRODUCTION: Morsier Syndrome is a rare congenital malformation, characterized by hypoplasia / aplasia of the septum pellucidum and hypoplasia / aplasia of the optic nerves, in addition to pituitary and hypothalamic hormonal deficiencies. Klinefelter Syndrome is a sexual chromosomal genetic alteration, a frequent cause of male hypogonadism, The association of Morsier syndrome and Klinefelter is described below. CLINICAL CASE We report he case of a 12 year-old boy with psychomotor retardation and nystagumsho presented at 14 months of age with growth hormone deficiency (low weight and height,) and diabetes insipuidus with hypernatremia of of 159 mEq and low urinary density (less than 1,005). MRI showed an absence of septum pellucidum, thick right frontal cortical dysplasia with asymmetric appearance of the grooves, small optic chiasma, hypoplastic pitutary gland (3 mm height), compatible with Morsier syndrome. The physical examination draws attention to tall stature, and long lower limbs, facies with prominent forehead and hypertelorism, gynecomastia and small external genitalia for age. Hormonal evaluation revealed hypergonadotropic hypogonadism with a 47 XXY karyoteype suggeting Klinefelter syndrome. CONCLUSION: We report the first case of Morsier syndrome, associated to Klinefelter syndrome. Both syndromes may present with hypogonadism. However, the diagnosis of klinefelter syndrome was made based on the phenotypic characteristics of this patient including hyeprgonadotroic hypogonadism and abnormal karyotype analysis.

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.

Sex Chromosome Translocations

2018 ◽  
Author(s):  
R. J McKinlay Gardner ◽  
David J Amor
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Transcriptional Silencing ◽  
The Other ◽  
X Chromosomes ◽  
Chromosome Form ◽  
Chromosome Translocations ◽  
Y Chromosomes ◽  
Autosomal Translocation

The sex chromosomes (gonosomes) are different, and sex chromosome translocations need to be considered separately from translocations between autosomes. A sex chromosome can engage in translocation with an autosome, with the other sex chromosome, or even with its homolog. The qualities of the sex chromosomes have unique implications in terms of the genetic functioning of gonosome-autosome translocations. This chapter acknowledges the specific peculiarities that the sex chromosomes imply: the X being subject to transcriptional silencing; and the very small Y gene complement being confined largely to sex-determining loci. It reviews translocations between sex chromosomes and autosomes; between X and Y chromosomes; and even the very rare circumstance of between X chromosomes and between Y chromosomes. The differences in assessing risk, according to chromosome form, in comparison with the autosomal translocation, are reviewed, and the biology behind these differences is discussed.

scholarly journals Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis

2018 ◽  
Vol 3 ◽  
pp. 10 ◽  
Author(s):  
Dianne F. Newbury ◽  
Nuala H. Simpson ◽  
Paul A. Thompson ◽  
Dorothy V. M. Bishop
Keyword(s):  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Synaptic Function ◽  
Neurodevelopmental Outcomes ◽  
Y Chromosomes ◽  
Wide Range ◽  
Comparison Groups ◽  
Double Hit ◽  
Stage 1 ◽  
The Impact

Background: The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however, obscure a wide range of outcomes. Hypothesis: The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. Neuroligin-4 genes are expressed from X and Y chromosomes; they play an important role in synaptic development and have been implicated in neurodevelopment. We predict that the impact of an additional sex chromosome on neurodevelopment will be correlated with common autosomal variants involved in related synaptic functions.  We describe here an analysis plan for testing this hypothesis using existing data. The analysis of genotype-phenotype associations will be conducted after this plan is published and peer-reviewed Methods: Neurodevelopmental data and DNA are available for 130 children with sex chromosome trisomies (SCTs: 42 girls with trisomy X, 43 boys with Klinefelter syndrome, and 45 boys with XYY). Children from a twin study using the same phenotype measures will form two comparison groups (Ns = 184 and 186). Three indicators of a neurodevelopment disorder phenotype will be used: (i) Standard score on a test of nonword repetition; (ii). A language factor score derived from a test battery; (iii) A general scale of neurodevelopmental challenges based on all available information. Autosomal genes were identified by literature search on the basis of prior association with (a) speech/language/reading phenotypes and (b) synaptic function. Preselected regions of two genes scoring high on both criteria, CNTNAP2 and NRXN1, will be tested for association with neurodevelopmental outcomes using Generalised Structural Component Analysis. We predict the association with one or both genes will be detectable in children with SCTs and stronger than in the comparison samples.

C-banded karyotypes of two Silene species with heteromorphic sex chromosomes

Genome ◽  
2002 ◽  
Vol 45 (2) ◽  
pp. 243-252 ◽  
Author(s):  
Aleksandra Grabowska-Joachimiak ◽  
Andrzej Joachimiak
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Silene Latifolia ◽  
Silene Dioica ◽  
Dna Amount ◽  
Metaphase Chromosomes ◽  
X Chromosomes ◽  
C Banding ◽  
Y Chromosomes ◽  
Heteromorphic Sex Chromosomes

Mitotic metaphase chromosomes of Silene latifolia (white campion) and Silene dioica (red campion) were studied and no substantial differences between the conventional karyotypes of these two species were detected. The classification of chromosomes into three distinct groups proposed for S. latifolia by Ciupercescu and colleagues was considered and discussed. Additionally, a new small satellite on the shorter arm of homobrachial chromosome 5 was found. Giemsa C-banded chromosomes of the two analysed species show many fixed and polymorphic heterochromatic bands, mainly distally and centromerically located. Our C-banding studies provided an opportunity to better characterize the sex chromosomes and some autosome types, and to detect differences between the two Silene karyotypes. It was shown that S. latifolia possesses a larger amount of polymorphic heterochromatin, especially of the centromeric type. The two Silene sex chromosomes are easily distinguishable not only by length or DNA amount differences but also by their Giemsa C-banding patterns. All Y chromosomes invariably show only one distally located band, and no other fixed or polymorphic bands on this chromosome were observed in either species. The X chromosomes possess two terminally located fixed bands, and some S. latifolia X chromosomes also have an extra-centric segment of variable length. The heterochromatin amount and distribution revealed by our Giemsa C-banding studies provide a clue to the problem of sex chromosome and karyotype evolution in these two closely related dioecious Silene species.Key words: dioecious plant, Silene dioica, Silene latifolia, karyotype, sex chromosomes, heterochromatin, C-banding.

scholarly journals Amplified Fragments of an Autosome-Borne Gene Constitute a Significant Component of the W Sex Chromosome of Eremias velox (Reptilia, Lacertidae)

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 779
Author(s):  
Artem Lisachov ◽  
Daria Andreyushkova ◽  
Guzel Davletshina ◽  
Dmitry Prokopov ◽  
Svetlana Romanenko ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
De Novo ◽  
Unknown Origin ◽  
Protein Product ◽  
W Chromosome ◽  
Protein Coding ◽  
X Chromosomes ◽  
Y Chromosomes ◽  
Total Female ◽  
Evolutionary Trajectories

Heteromorphic W and Y sex chromosomes often experience gene loss and heterochromatinization, which is frequently viewed as their “degeneration”. However, the evolutionary trajectories of the heterochromosomes are in fact more complex since they may not only lose but also acquire new sequences. Previously, we found that the heterochromatic W chromosome of a lizard Eremias velox (Lacertidae) is decondensed and thus transcriptionally active during the lampbrush stage. To determine possible sources of this transcription, we sequenced DNA from a microdissected W chromosome sample and a total female DNA sample and analyzed the results of reference-based and de novo assembly. We found a new repetitive sequence, consisting of fragments of an autosomal protein-coding gene ATF7IP2, several SINE elements, and sequences of unknown origin. This repetitive element is distributed across the whole length of the W chromosome, except the centromeric region. Since it retained only 3 out of 10 original ATF7IP2 exons, it remains unclear whether it is able to produce a protein product. Subsequent studies are required to test the presence of this element in other species of Lacertidae and possible functionality. Our results provide further evidence for the view of W and Y chromosomes as not just “degraded” copies of Z and X chromosomes but independent genomic segments in which novel genetic elements may arise.

Exploring academic and character strengths in students with sex chromosome aneuploidies

2021 ◽  
Vol 6 (1) ◽  
pp. 12-24
Author(s):  
Talia Thompson ◽  
Shanlee Davis ◽  
Stephanie Takamatsu ◽  
Susan Howell ◽  
Nicole Tartaglia
Keyword(s):  
Sex Chromosome ◽  
Character Strengths ◽  
Genetic Diagnosis ◽  
X Chromosomes ◽  
Psychosocial Risks ◽  
Electronic Survey ◽  
Love Of Learning ◽  
Academic Settings ◽  
Quantitative Results ◽  
Sex Chromosome Aneuploidies

Children with sex chromosome aneuploidies (SCAs) are often characterized in the literature by limitations and pathologies related to the genetic diagnosis. This study aimed to broaden the SCA phenotype by describing parent reported character and academic strengths. Parents of children with SCAs ages 3-21 (N=377) responded to an electronic survey asking them to describe their child’s strengths in academic settings. Responses were coded for strengths-based content and analyzed using a mixed-methods content analysis approach. We identified overarching qualitative themes of Social Strengths and Assets for Learning. Quantitative results showed a pattern of overlapping strengths among the trisomy SCAs (perseverance and love of learning), with some significant differences between children with supernumerary X chromosomes (strengths in kindness) and those with an additional Y chromosome (strengths in curiosity, humor, and teamwork). Suggestions for future strengths-based research and educational practices to address academic, developmental, and psychosocial risks are explored.

Mixed-Up Sex Chromosomes: Identification of Sex Chromosomes in the X1X1X2X2/X1X2Y System of the Legless Lizards of the Genus Lialis (Squamata: Gekkota: Pygopodidae)

2016 ◽  
Vol 149 (4) ◽  
pp. 282-289 ◽  
Author(s):  
Michail Rovatsos ◽  
Martina Johnson Pokorná ◽  
Marie Altmanová ◽  
Lukáš Kratochvíl
Keyword(s):  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Comparative Genomic ◽  
X Chromosomes ◽  
Telomeric Sequences ◽  
Multiple Sex Chromosomes ◽  
Y Chromosomes ◽  
Heteromorphic Sex Chromosomes ◽  
Cytogenetic Analyses ◽  
Male Heterogamety

Geckos in general show extensive variability in sex determining systems, but only male heterogamety has been demonstrated in the members of their legless family Pygopodidae. In the pioneering study published more than 45 years ago, multiple sex chromosomes of the type X1X1X2X2/X1X2Y were described in Burton's legless lizard (Lialisburtonis) based on conventional cytogenetic techniques. We conducted cytogenetic analyses including comparative genomic hybridization and fluorescence in situ hybridization (FISH) with selected cytogenetic markers in this species and the previously cytogenetically unstudied Papua snake lizard (Lialis jicari) to better understand the nature of these sex chromosomes and their differentiation. Both species possess male heterogamety with an X1X1X2X2/X1X2Y sex chromosome system; however, the Y and one of the X chromosomes are not small chromosomes as previously reported in L. burtonis, but the largest macrochromosomal pair in the karyotype. The Y chromosomes in both species have large heterochromatic blocks with extensive accumulations of GATA and AC microsatellite motifs. FISH with telomeric probe revealed an exclusively terminal position of telomeric sequences in L. jicari (2n = 42 chromosomes in females), but extensive interstitial signals, potentially remnants of chromosomal fusions, in L.burtonis (2n = 34 in females). Our study shows that even largely differentiated and heteromorphic sex chromosomes might be misidentified by conventional cytogenetic analyses and that the application of more sensitive cytogenetic techniques for the identification of sex chromosomes is beneficial even in the classical examples of multiple sex chromosomes.

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