1 edition of Klinefelter"s syndrome, a clinical and cytogenetic study in twenty-four cases. found in the catalog.
Klinefelter"s syndrome, a clinical and cytogenetic study in twenty-four cases.
Bibliography: p. 34-36.
|Statement||By Klaus Zuppinger [and others]|
|Series||Acta endocrinologica. Supplementum,, 113|
|Contributions||Zuppinger, Klaus A.|
|LC Classifications||RC882 .K6|
|The Physical Object|
|Number of Pages||48|
|LC Control Number||73456818|
Background: Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder in man; it affects approximately one in men and is a common cause of hypogonadism and infertility. Our current knowledge of morbidity in KS is based on observational studies and case reports and therefore is limited. Design: We used Danish registers to obtain dates of hospital admissions and Cited by: Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient.
“Klinefelter Syndrome,” ). This clarification by Dr. Tjio and Dr. Lavan is the basic. foundation for modern cytogenetics, the study of chromosomes and diseases originating from. numerical or structural abnormalities in chromosomes (“Klinefelter Syndrome,” ). Dr. We have undertaken a retrospective study of a large group of patients with this condition in order to establish their phenotypic and laboratory characteristics. Methods The clinical records of 50 patients with Klinefelter's syndrome seen at the Mayo Clinic from through were studied. All of the patients were examined by at least one Cited by:
Purpose The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter syndrome in order to derive research priorities. Methods This study was conducted using Cited by: Cytogenetics: 85 % 47,XXY in all the studied cells 15% mosaXXY/46,XY or 47,XXY/46,XX Klinefelter syndrome •No frontal baldness •Poor beard growth •Breast development •Female type pubic hair pattern •Small testicles •Long legsFile Size: 2MB.
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Acta Endocrinol (Copenh). ;Suppl +. Klinefelter's syndrome, a clinical and cytogenetic study in twenty-four cases. Zuppinger K, Engel E, Forbes AP Cited by: Get this from a library. Klinefelter's syndrome, a clinical and cytogenetic study in twenty-four cases.
[Klaus A Zuppinger;]. Klinefelter Syndrome is a chromosomal abnormality characterized in 80% of cases by a set of chromosomes 47 XXY and 20% from XXXY karyotype, xxyy or frameworks such as mosaicism 47XXY/46XX, 47XXY/46XY, etc.; Despite chromosome damage, in a female genotype, the Y chromosome would prevail, leading to the male phenotype.
Clinical and Therapeutic Experiences with Klinefelter J. Mantooth, J. Claffey, Klinefelterâ€™s syndrome, a clinical and cytogenetic study in twenty-four cases Acta Endocr (Kobenhavn) Suppl. () 5- ntra-areolar incision Ann Surg () E. Engel, A.P. Forbes, J.
Mantooth, J. ClaffeyKlinefelter’s syndrome, a Cited by: Klinefelter syndrome in clinical practice. Nat Clin Pract Urol Article Literature Review (PDF Available) in Nature Clinical Practice Urology 4(4) May with 1, Reads. A case study of a 3-year-old boy, said to be the youngest known Klinefelter patient (47 XXY) with severe psychopathology, mental retardation, and speech disorder is presented and discussed.
The possibility of childhood schizophrenia was raised and a diagnosis of “emotional disturbance” formulated by other specialists on the basis of the child's stressful home by: 8.
Background: Clinical phenotype in klinefelter syndrome shows utmost contrariety according tothe genetic presentation.
The karyot XXY is one of the commonest types of sex chromosomal. The clinical features of Klinefelter syndrome and its variants are summarized in Table In the most severe situations, a young man may be diagnosed because of small testes, gynecomastia, poor androgenization Klinefelters syndrome puberty, eunuchoid proportions, or infertility.
Diagnosis before puberty is. Clinical Care Issues Klinefelter syndrome The diagnosis of Klinefelter syndrome is based on the presence of at least one extra X chromosome, in the presence of a Y chromosome.
The most common form of Klinefelter syndrome is due to a 47,XXY karyotype and is found in about 80% of cases, but can also be due to variant karyotypes.
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition.
In some cases, the features of the condition are so mild. Objective To investigate the criminal pattern in men between 15 and 70 years of age diagnosed wXXY (Klinefelter's syndrome (KS)) or 47,XYY compared to the general population. Design Register-based cohort study comparing the incidence of convictions among men with KS and wXYY with age- and calendar-matched samples of the general by: Zuppinger KK, Engel E, Forbes AP et al: Klinefelter’s syndrome: A clinical and cytogenetic study in twenty-four cases.
Acta Endocrinol (Copenh) 54(suppl ):5, The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages.
The diagnosis of KS was more frequent in the age group between 11 and 20 years (%). Most of the patients (%) showed the clasXXY karyotype and % showed a 47,XXY/46,XY by: InKlinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm.
Inthese men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY).
Klinefelter syndrome (KS), also known as 47, XXY is the set of symptoms that result from two or more X chromosomes in males. The primary features are infertility and small poorly functioning testicles.
Often, symptoms may be subtle and many people do not realize they are affected. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less Causes: Two or more X chromosomes in males.
Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. It can affect physical and mental development. When in Harry Klinefelter and his colleagues described the condition carrying his name (1), its aetiology was unknown.
In Jacobs and Strong (2) recognized the chromosomal basis of the disorder, until then solely defined through a set of clinical criteria. Ever since, diagnosing Klinefelter’s syndrome has required the demonstration of XXY karyotype or one of its rare : Dieter Meschede. Klinefelter’s syndrome (KS) is a chromosomal disorder in males classically defined as a 47, XXY karyotype.
This syndrome is characterized by hypogonadism, infertility, and gynecomastia. It is also frequently associated with tall stature, disproportionately long extremities, developmental delay, mood problems, and behavioral issues.
1 – 5Cited by: 3. Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself.
Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious by: Introduction. Klinefelter syndrome (KS) is the most common sex chromosomal disorder affecting approximately 1 in males.
It manifests clinically as infertility, delayed secondary sexual characters, gynecomastia and learning disabilities. These patients are detected incidentally during cytogenetic evaluation of neoplasia. Patients of KS have been reported to have a higher risk of breast. What is Klinefelter’s syndrome?
Klinefelter’s syndrome is the clinical result of an additional X chromosome in males (47,XXY), although other chromosome abnormalities (such as 46,XY/47,XXY mosaicism; 48,XXXY; 49,XXXXY) account for % of cases.1 2 Classic clinical findings include infertility, small testes, hypergonadotropic hypogonadism (elevated luteinising Cited by: 9.Klinefelter syndrome in clinical practice In a Danish study of patients with Klinefelter syndrome, 90% had XXY karyotype, mately 50% of cases of Klinefelter syndrome).
Klinefelter Syndrome is also called "47, XXY syndrome" Some Klinefelter patients h 49, or 50 chromosomes. All of the extra chromosomes are Xs. Males with several extra X chromosomes may have distinctive facial features, retardation, deformities of bony structures, and even more disordered development of male features.