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Letter: Klinefelter'ssyndrome and maternal XX/XXX mosaicism. 1121018 1975 06 25 2018 11 13 0022-2593 12 1 1975 Mar Journal of medical genetics J. Med. Genet. Letter: Klinefelter'ssyndrome and maternal XX/XXX mosaicism. 114 Tsuang M T MT Miller J R JR De Bault L E LE eng Journal Article England J Med Genet 2985087R 0022-2593 IM Adult Chromosomes Female Humans KlinefelterSyndrome genetics Male Mosaicism Sex Chromosome Aberrations genetics 1975 3 1 1975 3 1 0 1 1975 3 1 0 0 ppublish 1121018
Congenital hypothyroidism in Klinefelter'ssyndrome. Congenital hypothyroidism has been found in four patients with Klinefelter'ssyndrome. It is likely that this reflects more than chance concurrence of these conditions.
Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts. The karyotype 49,XXXXY is a rare form of Klinefeltersyndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations.We describe a 19-year-old man, whose chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY. His mental development and motor ability were significantly delayed. At the age (...) of 19, he had failed to develop secondary sexual characteristics. His random blood glucose level was 19.61 mmol/L, and he showed dry mouth, polydipsia, and polyuria. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus. His bilateral elbow rotation was limited. He had atrophic testes with micropenis. Ophthalmic examination revealed a polar cataract in both eyes.He was diagnosed with Klinefeltersyndrome associated with cleft palate, hypothyroidism
is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT01817296 Recruitment Status : Completed First Posted : March 25, 2013 Last Update Posted : May 15, 2014 Sponsor: Boston Children’s Hospital Information provided by (Responsible Party): Boston Children’s Hospital Study Details Study Description Go to Brief Summary: Klinefeltersyndrome occurs in 1 in 600 males (...) patients younger than 26 years of age. Additionally, there is currently no way to predict which Klinefelter patients will have success with these methods and which of them will not. This trial will explore sperm extraction in Klinefeltersyndrome in an age range (12-25 years) that has never been studied, with the ultimate hope of improving the potential for fertility in these patients. The specific goals of this study are to determine the ideal age for sperm retrieval in Klinefelter patients
Are all men with Klinefelterssyndrome completely infertile/ azoospermic? Are all men with Klinefelterssyndrome completely infertile/ azoospermic? - Trip Database or use your Google+ account Find evidence fast ALL of these words: Title only Anywhere in the document ANY of these words: Title only Anywhere in the document This EXACT phrase: Title only Anywhere in the document EXCLUDING words: Title only Anywhere in the document Timeframe: to: Combine searches by placing the search numbers (...) , patient information leaflets, educational courses and news. For further information on Trip click on any of the questions/sections on the left-hand side of this page. But if you still have questions please contact us via email@example.com Are all men with Klinefelterssyndrome completely infertile/ azoospermic? We found very little information with which to answer this query. One small study published in 2010 which reported on sperm retrieval in the ejaculate and testis, and evaluation
Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity. A higher frequency of twin births in sibships of Klinefeltersyndrome patients and also monozygotic or dizygotic twins, themselves being affected by Klinefeltersyndrome have been noted repeatedly. To address this issue, we evaluated type and frequency of twinning among Klinefelter fetuses that we had received for autopsy within a 'Prenatal Diagnosis (...) ' program.We performed fetal autopsies, and genetic analyses on DNA extracted from stained histological slides.Among 41 prenatal diagnoses of a 47, XXY karyotype we observed four twin pairs. One was dizygotic with discordant Klinefelter and Down syndrome. Three twin pairs were monozygotic as concluded from monochorial placentation. In two monozygotic pairs one twin partner was an acardiac monster and in one of these the acardiac twin showed a female gonadal sex and missing Y-chromosomal SRY-sequences
individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter'ssyndromes should be included. This article explores initial descriptions of Turner and Klinefelter'ssyndromes and their subsequent inclusion in intersex classifications, which were increasingly (...) Shifting syndromes: Sex chromosome variations and intersex classifications The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some
dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11.2 deletion syndrome, Angelman syndrome, Fragile X syndrome, Klinefeltersyndrome, Prader-Willi syndrome, Rett syndrome, Smith-Magenis syndrome, Turner syndrome, and Williams syndrome) and shed some light on the specific mechanisms that may underlie these skills in each clinical presentation. We first detail the different processes included in the generic (...) Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive
a somatic mosaicism in EBP or present with Klinefeltersyndrome. Here, we report CDPX2 patients belonging to a three-generation family, carrying the splice variant c.301 + 5 G > C in intron 2 of EBP. The grandfather carries the variant as mosaic state and presents with short stature and mild ichthyosis. The mother also presents with short stature and mild ichthyosis and the female fetus with severe limb and vertebrae abnormalities and no skin lesions, with random X inactivation in both. This further (...) New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. X-linked dominant chondrodysplasia punctata (CDPX2 or Conradi-Hünermann-Happle syndrome, MIM #302960) is caused by mutations in the EBP gene. Affected female patients present with Blaschkolinear ichthyosis, coarse hair or alopecia, short stature, and normal psychomotor development. The disease is usually lethal in boys. Nevertheless, few male patients have been reported; they carry
Rare 48, XYYY syndrome: case report and review of the literature 48, XYYY syndrome is a rare condition. A male with 32-year-old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefeltersyndrome. In this patient, Semi-Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints, likewise mental health problems were obvious.
investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation. Three children (2 boys and 1 girl) were compatible with the diagnosis of progressive pseudorheumatoid chondrodysplasia. The genetic mutation was correlated with the WISP 3 gene actively expressed by articular chondrocytes and located on chromosome 6. Klinefeltersyndrome was the diagnosis in 2 boys. Karyotyping confirmed 47,XXY (...) (aneuploidy of Klinefeltersyndrome). And 2 boys were finally diagnosed with Morquio syndrome (MPS type IV A) as both showed missense mutations in the N-acetylgalactosamine-sulfate sulfatase gene. Misdiagnosis can lead to the initiation of a long list of sophisticated investigations.
A 47,XXq-Y Klinefelter male. 5149539 1972 08 01 2018 11 13 0022-2593 8 4 1971 Dec Journal of medical genetics J. Med. Genet. A 47,XXq-Y Klinefelter male. 530-2 Chandra H S HS Reddy G N GN Peter J J Venkatachalaiah G G eng Case Reports Journal Article England J Med Genet 2985087R 0022-2593 0 Blood Group Antigens 10028-17-8 Tritium VC2W18DGKR Thymidine IM Adolescent Autoradiography Blood Group Antigens Dermatoglyphics Hair cytology Humans Karyotyping KlinefelterSyndrome pathology Lymphocytes
and Loeys–Dietz syndrome. In children, the cardiovascular and skeletal features of Marfan syndrome may not be obvious, and diagnoses of homocystinuria or Klinefeltersyndrome may be considered. Applying the revised diagnostic criteria should allow most differential diagnoses to be distinguished. For example, a common diagnosis in our Marfan clinic (28 of 198 index cases) is familial aortic dilatation and/or dissection. The new criteria outlined in clearly show that this is not Marfan syndrome unless (...) Recent developments in the diagnosis of Marfan syndrome and related disorders Recent developments in the diagnosis of Marfan syndrome and related disorders | The Medical Journal of Australia mja-search search Use the for more specific terms. Title contains Body contains Date range from Date range to Article type Author's surname Volume First page doi: 10.5694/mja__.______ Search Reset close Individual Login Purchase options Connect person_outline Login keyboard_arrow_down Individual Login
provoked by disorders such as the Klinefeltersyndrome or testicular injury, in which there is evi- dence of hypothalamic-pituitary-adrenal axis often with severe health consequences. in these cases, the testosterone supplementation is justified. h owever over the last few years it has been pro- posed that the simple fact of having testosterone below the normal levels, which occurs with the pas- sage of time, provokes a constellation of disorders in men that can be reverted by the administration (...) , the administra- tion of testosterone allows for optimum levels to be reached in disorders such as Klinefeltersyndrome (the most frequent cause of hypogonadism). Beyond the reasonable use of testosterone, the extension of Finally, the objective is reached and sales revenues of testosterone preparations grow with no epide- miogical base. in 2001, sales in the uSa were well over 1600 million dollars. 29 in australia every new modification made to the testosterone presentation is accompanied by an increase
cause, i.e. primary hypogonadism caused e.g. by Klinefelterssyndrome, cryptorchidism, condition following orchiectomy. Known secondary hypogonadism caused by pituitary adenoma. Patients on antiandrogen medication, Clinical signs of infection in the week before inclusion or history of a severe infection during the last 2 months, Severe immunosuppression (e.g. patients with previously known infection with human immunodeficiency virus and a cluster of differentiation 4 (CD4) count below 350 x 109/L (...) Effects of Interleukin-1 Beta on Low Testosterone Levels in Men With Obesity and Metabolic Syndrome Effects of Interleukin-1 Beta on Low Testosterone Levels in Men With Obesity and Metabolic Syndrome - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please
had a Klinefeltersyndrome, followed by patients with Yq microdeletions. Array comparative genomic hybridization in a selected group of "idiopathic patients" showed no known infertility related copy number variations. (...) Sertoli Cell-Only Syndrome: Behind the Genetic Scenes Sertoli cell-only syndrome is defined by the complete absence of germ cells in testicular tissues and always results in male infertility. The aetiology often remains unknown. In this paper, we have investigated possible causes of Sertoli cell-only syndrome with a special focus on genetic causes. Our results show that, for a large part of the patients (>23% in an unselected group), the sex chromosomes are involved. The majority of patients
A rare sex chromosome aneuploidy: 48,XXYY syndrome 48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefeltersyndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male (...) palpebral fissures, depressed nasal bridge, long philtrum, incomplete cleft lip and micrognathia. Clinodactilia was found in the fifth fingers in both hands and large big toes and adduction in the second and third toes were found in both feet. Karyotype analysis showed a chromosomal composition of 48,XXYY. The patient presented here is the second Turkish case of 48,XXYY syndrome.
in 30% of the patients. We identified a homogenous Klinefeltersyndrome patient with 47, XXY karyotype, a mosaic Klinefeltersyndrome patient with 47, XXY/46, XY karyotype and a 46, XX male. Fluorescence in situ hybridization showed that the sex-determining region Y was translocated to the short arm of the X chromosome in patient with 46, XX chromosomal constitution and the presence of the SRY gene was confirmed by polymerase chain reaction and electrophoresis.The occurrence of chromosomal (...) Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome In Algeria, the data on infertility and its various causes are rare. Recently, the introduction of assisted reproduction has allowed expecting that 300000 couples, which represent 7% of couples of reproductive age, face difficulty conceiving a child. Knowing that most idiopathic cases are likely to be due to chromosomal abnormalities, we aimed to investigate genetic defects