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Topic: 47,XXY


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In the News (Sat 26 Dec 09)

  
  KS&A - Even Exchange Newsletter Article - Issue #5   (Site not responding. Last check: 2007-09-11)
Although it is not known what causes a 47,XXY chromosome constitution, it has been demonstrated that it can originate in either the mothers' egg or the father's sperm.
Although several studies of mental/penal institution populations have reported increased frequencies of aggressive and criminal behavior in institutionalized males with Klinefelter syndrome, criminality is not considered to be a typical feature of the condition.
In summary, 47,XXY individuals with IQ's falling into the lower range and lacking a supportive environment may be at somewhat higher risk for developing aggressive and/or criminal behaviors.
www.genetic.org /ks/newsletter/evex9301.htm   (2223 words)

  
 Results of the search
Klinefelter's syndrome with a 47,XXY, inv (12) (q15q24) karyotype.
47/XXY KLINEFELTER'S SYNDROME IN AN INFANT WITH ABNORMAL GENITALIA.
Human reproduction (Oxford, England) A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome: case report.
invention.swmed.edu /trite/abstracts/user-1015735437/results.shtml   (2897 words)

  
 Craniosynostosis   (Site not responding. Last check: 2007-09-11)
In approximately 55% of the cases of 47,XXY, the extra X chromosome was of maternal origin, and in the majority of these cases the nondisjunction occurred in MI.
Fetal sex chromosomal abnormalities (47,XXX, 47,XXY, and 47,XYY) have been associated with increased nuchal translucency, which is the accumulation of fluid in the back of the neck of the fetus which takes place between 11 and 14 weeks.
Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: Estimated rates of and indication for postnatal diagnosis with implications for prenatal counseling.
www.dshs.state.tx.us /birthdefects/risk/risk19-klinefelter.shtm   (3023 words)

  
 KLINEFELTER SYNDROME
47,XXY male through amniocentesis were generally being tested for another reason.
There is currently no general screening process for 47,XXY.
Testosterone is a male hormone that is nut fully produced by 47,XXY males.
xxy.50megs.com /ks2.htm   (639 words)

  
 Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: ...
Abramsky, L. and Chapple, J. (1997) 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling.
Rives, N., Joly, G., Macly, A., Siemon, N., Leclerc, P. and Macé, B. (2000) Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype.
Terzoli, G., Lalatta, F., Lobbiani, A., Simoni, G. and Colucci, G. (1992) Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting.
humrep.oxfordjournals.org /cgi/content/full/18/2/271   (3668 words)

  
 © The Centre for Genetics Education   (Site not responding. Last check: 2007-09-11)
The incidence of Klinefelter syndrome does not appear to be related to either the age of the mother or the father at the time of conception.
Boys with 47,XXY in all their cells are highly unlikely to ever have children, although advances in assisted reproductive technologies is making this more possible.
Therefore, it may be possible for a man with 47,XXY to have a child who also has 47,XXY, but this has not been recorded to date.
www.genetics.com.au /factsheet/30.htm   (1384 words)

  
 Klinefelters Syndrome - klinefelters syndrome pics
It occurs in about 1 in 1,000 male births, but the symptoms that may result from having the extra chromosome are less common.
The condition is associated with an increased risk of breast cancer, pulmonary disease, varicose veins, and osteoporosis.
While it is possible to characterise 47,XXY males with certain body types, that in itself should not be the method of identification as to whether someone has 47,XXY or not.
www.medicalgeo.com /Med-Diseases-I---K/Klinefelters-Syndrome.html   (505 words)

  
 Klinefelter Syndrome and Its variants
Many 47,XXY boys appear to enter puberty normally with a tendency for testosterone concentrations to decline at late adolescence and early adulthood.
One study characterized 47,XXY males as timid, immature, and reserved, with difficulty relating to their peer group, whereas other studies described 47,XXY subjects as friendly, kind, helpful, and relates well with other people.
A 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter’s syndrome.
www.orpha.net /data/patho/GB/uk-KS.html   (1972 words)

  
 About Klinefelter Syndrome   (Site not responding. Last check: 2007-09-11)
47/XXY is estimated to occur in one out of 500 males, making it the most common chromosomal disorder.
Rather than the normal male chromosome pattern, 46XY, there is an extra X chromosome.
However, because the manifestation of 47XXY varies from person to person, this complete syndrome is not found in the majority of XXY's.
www.klinefelter-ohio.com /Overview.htm   (449 words)

  
 Analysis of Meiosis in Intratesticular Germ Cells from Subjects Affected by Classic Klinefelter's Syndrome -- Foresta ...
A, Cytologic appearance of a spermatogonium retrieved by fine needle aspiration of the testis from a nonmosaic 47,XXY Klinefelter’s subject (May Grünwald-Giemsa staining).
B, Three-color FISH of a spermatogonium exhibiting a 47,XXY chromosome pattern.
Terzoli G, Lalatta F, Lobbiani A. 1992 Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting.
jcem.endojournals.org /cgi/content/full/84/10/3807   (2632 words)

  
 Klinefelter's syndrome - Wikipedia, the free encyclopedia
Klinefelter's syndrome, 47XXY or XXY syndrome is a condition caused by a chromosome nondisjunction in males; affected individuals have a pair of X sex chromosomes instead of just one, and is associated with additional risk for some medical conditions.
These triploid genes in XXY males may be responsible for symptoms associated with Klinefelter's syndrome.
The first published report of a man with a 47,XXY karyotype was by Patricia A. Jacobs and Dr. J.A. Strong at Western General Hospital in Edinburgh, Scotland in 1959.
en.wikipedia.org /wiki/Klinefelter's_syndrome   (637 words)

  
 eMedicine - Klinefelter Syndrome : Article by Harold Chen, MD, MS, FAAP, FACMG   (Site not responding. Last check: 2007-09-11)
Pea-size testes, micropenis, and infantile secondary sex characteristics are characteristic in patients with 49,XXXXY, whereas patients with 48,XXXY exhibit milder hypogonadism similar to that of patients with 47,XXY.
Klinefelter syndrome is caused by the presence of an additional X chromosome in a male.
Between 80% and 90% of patients have 47,XXY.
www.emedicine.com /PED/topic1252.htm   (2957 words)

  
 What is XXY?
Men inherit an X chromosome from their mothers and a Y chromosome from their fathers, written 46,XY.
Some individuals, however, have an additional X chromosome in their chromosomal arrangement, referred to as 47,XXY, or more commonly, just XXY.
The cause is unknown, yet XXY occurs in approximately 1 in every 500 to 1000 live male births, making it one of the most common chromosome variations.
www.47xxy.org /XXY.htm   (119 words)

  
 [No title]
47/XXY is estimated to occur in one out of 500 males, making it the most common sex chromosome variation.
For many years, this condition has been called Klinefelter Syndrome, named for Dr. Harry Klinefelter, who published a paper in 1942 about nine men with enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm.
However, because the manifestations of 47XXY vary from person to person, some individuals may not have all of the characteristics described.
www.aaksis.org /BrochureA.cfm   (554 words)

  
 Refractory leg ulcers in a patient with 48,XXYY, a rare variant of Klinefelter's syndrome
Patients with this syndrome have at least one extra X chromosome which results in a karyotype of 47,XXY or, in less common variations, 48,XXXY, 49,XXXXY and XY/XXY mosaic (1).
In comparison to patients with 47,XXY Klinefelter's syndrome, those patients with 48,XXYY have a higher incidence of peripheral vascular abnormalities (3, 5).
Varicosities and chronic venous insufficiency are often observed, in Klinefelter patients with a frequency of 11 - 41% (7).
www.mf.uni-lj.si /acta-apa/acta-apa-02-4/3.html   (1672 words)

  
 KS&A Home Page   (Site not responding. Last check: 2007-09-11)
KS&A’s vision is to create a world in which children and adults with X and Y chromosome variations (or aneuploidies) can lead more productive and fuller lives, thereby enriching society as a whole.
The first of these conditions to be identified was 47,XXY (referring to the fact that the male has 47 chromosomes including 2 X’s and 1 Y).
This web site provides information about when 47,XXY was first discovered, the common characteristics of Klinefelter syndrome, on-going research and treatment.
www.genetic.org /ks   (650 words)

  
 Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations   (Site not responding. Last check: 2007-09-11)
We report a 4-year-old hyperactive, mentally retarded male with 47,XXY and UPD for fra(X).
Routine chromosome analysis revealed the proband to be 47,XXY.
No cells had two expressed fra(X)s; however, this may be a function of the low level of expression and the number of cells scored.
www.osti.gov /energycitations/product.biblio.jsp?osti_id=133773   (312 words)

  
 Klinefelter syndrome - Genetics Home Reference
Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, for a total of 47 chromosomes per cell.
Males normally have one X chromosome and one Y chromosome in each cell (46,XY), but males with Klinefelter syndrome have two X chromosomes and one Y chromosome (47,XXY).
As a result of this error, some cells have one X chromosome and one Y chromosome (46,XY), and other cells have an extra copy of the X chromosome (47,XXY).
ghr.nlm.nih.gov /condition=klinefeltersyndrome   (842 words)

  
 High Incidence of Sperm Sex Chromosomes Aneuploidies in Two Patients with Klinefelter's Syndrome -- Foresta et al. 83 ...
Regular meiosis in a 47,XXY spermatogonium with XX pairing should lead
On the other hand, 47,XXY spermatogonia with XY pairing and univalent
1992 Fertility in 47,XXY patients: assessment of biological paternity by deoxyribonucleic acid fingerprinting.
jcem.endojournals.org /cgi/content/full/83/1/203   (2724 words)

  
 Long term outcome in children of sex chromosome abnormalities -- Ratcliffe 80 (2): 192 -- Archives of Disease in ...
Most boys with the karyotypes 47,XXY and 47,XYY and girls with 47,XXX are never diagnosed.
The 19 47,XXY boys seen for follow up had a normal social class distribution, and DNA studies showed the additional X chromosome
Ratcliffe SG, Pan H, McKie M. Growth and sexual development of 47,XXY boys identified by population screening.
adc.bmjjournals.com /cgi/content/full/80/2/192   (3013 words)

  
 Available Klinefelter Listservs for E-mail contact with others (via CobWeb/3.1 planetlab2.cs.virginia.edu)   (Site not responding. Last check: 2007-09-11)
For parents of children 4 to 7 with 47,XXY
For parents of children 8 - 11 with 47,XXY
For parents of adolescents and dependant young adults with 47,XXY
klinefeltersyndrome.org.cob-web.org:8888 /List_of_available_email_listservs.html   (94 words)

  
 XXY Male Mice: An Experimental Model for Klinefelter Syndrome -- Lue et al. 142 (4): 1461 -- Endocrinology
Klinefelter syndrome (47,XXY) is the most common sex chromosome aneuploidy
Robinson A, Lubs HA, Nielson J, Sorensen K 1979 Summary of clinical findings: profiles of children with 47,XXY, 47,XXX, and 47, XYY karyotypes.
Geschwind DH, Gregg J, Boone K, Karrim J, Pawlikowska-Haddal A, Rao E, Ellison J, Ciccodicola A, D’Urso M, Rappold GA, Swerdloff RS, Nelson SF 1998 Klinefelter’s syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray.
endo.endojournals.org /cgi/content/full/142/4/1461   (5309 words)

  
 Cytogenetic analysis of spermatozoa from males aged between 47 and 71 years -- Rives et al. 39 (10): 63 -- Journal of ...
Bosch M, Rajmil O, Martinez-Pasarell O, Egozcue J, Templado C. Linear increase of diploidy in human sperm with age: a four-colour FISH study.
Rives N, Joly G, Machy A, Siméon N, Leclerc P, Macé B. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype.
Mroz K, Hassold TJ, Hunt PA. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors.
jmg.bmjjournals.com /cgi/content/full/39/10/e63   (2847 words)

  
 Welcome to the Chromosomes Directory
Although boys with 47,XXY may struggle through adolescence with limited academic success, many frustrations, and, in a few instances, serious emotional or behavioral difficulties, most are moving toward full independence from their families as they enter adulthood.
Adolescent male with gynecomastia who has Klinefelter syndrome.
Robinson A, Lubs HA, Nielsen J: Summary of clinical findings: profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes.
www.2beornot2be.com /Chromosomes/ks1/index.html   (2639 words)

  
 XXY Males Klinefelter
In 1942, Harry Klinefelter and associates described the syndrome … found in approximately 1 per 1,000 males … chromosome constitution 47,XXY is found in approximately 80%.
In 6% there is normal chromosome constitution, 46,XY, in part of the cells and 47,XXY in the rest, i.e.
An Internet mailing list has been created for the exchange of information and support of Klinefelter Syndrome...
ibis-birthdefects.org /start/klinefel.htm   (553 words)

  
 Quiz
Which of the following syndromes are associated with maternal disomy for chromosome 15?
Which of the following syndromes are associated with the chromosome complement of 47,XXY?
Which one of the following individuals, from the information given, is not an "obligate carrier" of the mutant disease causing gene in their family.
www2.umdnj.edu /~genetics/qscore/midterm.html   (797 words)

  
 Main Index - XXYTalk.com
We promote your continued association with the prominent 501(c)(3) non-profit Klinefelter Syndrome support organizations.
I myself am "47,XXY" -- thus, I am one of you!
A chromosomal anomaly in males characterized by the presence of two X-chromosomes and one Y-chromosome, causing reduced testicular size, seminiferous tubule dysgenesis, and infertility.
www.xxytalk.com   (1356 words)

  
 Factors Influencing Parental Decision Making in Prenatal Diagnosis of Sex Chromosome Aneuploidy -- Mezei et al. 104 ...
(14/16, 87%), with 45,X or 47,XXY karyotypes (26/36, 72%), and
termination rates across time in pregnancies with 45,X and 47,XXY
Androgen Receptor CAGn Repeat Length Influences Phenotype of 47,XXY (Klinefelter) Syndrome
www.greenjournal.org /cgi/content/abstract/104/1/94   (365 words)

  
 Clinical and Diagnostic Features of Patients With Suspected Klinefelter Syndrome -- Kamischke et al. 24 (1): 41 -- ...
Key words: Male hypogonadism, testosterone substitution, 47,XXY, Barr body analysis
patients with 47,XXY bear a congenital numerical chromosome aberration.
In the remaining 85 patients (group I), 80 patients
www.andrologyjournal.org /cgi/content/full/24/1/41   (4200 words)

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