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Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B).
Stem Cell Res
December 2020
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia. Electronic address:
Klinefelter Syndrome (KS) is caused by the presence of a supernumerary X chromosome. Cytogenetic studies revaled that 80-90% of patients carry a 47-XXY karyotype, while 10-20% of cases are represented by mosaic 46-XY/47-XXY and high-grade aneuploidies 48-XXXY and 48-XXYY. The phenotypic traits of KS are highly variable across individuals and include cognitive dysfunction, metabolic dysregulation, osteoporosis, and cardiovascular diseases.
View Article and Find Full Text PDF[Atypical presentation of Klinefelter syndrome].
An Pediatr (Barc)
August 2013
Sección de Endocrinología, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Klinefelter syndrome (KS) is the most common sex chromosomal abnormality and is associated with hypergonadotropic hypogonadism as an endocrine disorder. The phenotype is characterized by tall stature, abdominal adiposity and small testicles, and often appears after puberty.We report two cases of SK.
View Article and Find Full Text PDF48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.
Case Rep Med
July 2011
Department of Endocrinology and Internal Medicine, Tahar Sfar Hospital, Hiboune, Mahdia 5100, Tunisia.
A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy.
View Article and Find Full Text PDFA simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.
Mol Hum Reprod
October 2007
Department of Growth and Reproduction, Juliane Marie Centre, Section GR-5064, The National University Hospital of Copenhagen, DK-2100, Copenhagen, Denmark.
Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis. Here, we report on the development and detailed clinical validation of a quantitative real-time PCR (qPCR)-based method of the copy number assessment of the androgen receptor (AR) gene, located to Xq11.2-q12.
View Article and Find Full Text PDF[48XXYY Klinefelter's syndrome with recurrent foot ulcers: a case report].
Hinyokika Kiyo
January 2002
Department of Urology, Osaka Koseinenkin Hospital.
A case of 48XXYY Klinefelter's syndrome diagnosed with foot ulcers, in a 43-year-old man, is reported. He presented to the Department of Dermatology in our hospital with the chief complaint of recurrent foot ulcers. He was referred to us because of atrophic external genitalia.
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