We herein report a case of infective endocarditis associated with mitral valve prolapse (MVP) in a 34-year-old man with Klinefelter syndrome. The patient was admitted with a fever and headache that had persisted for three weeks. Repeated blood cultures showed growth of Streptococcus oralis. Echocardiography demonstrated severe mitral regurgitation with a large vegetation attached to the prolaps...

Klinefelter syndrome is an abnormality of sexual development which is usually characterised by the chromosome complement 47,XXY. We present a case of a male patient with the phenotypic appearance of Klinefelter syndrome and primary infertility, who was found, on karyotype analysis, to have a hitherto undescribed inversion of the long arm of the X chromosome (46,Y,inv(X)(q12q25)). The underlying...

BACKGROUND The 47,XXY syndrome, or Klinefelter syndrome, though it is a rare occurrence, it is the most common sex choromosome disorder affecting male subjects. This syndrome is underdiagnosed and seldomly before puberty. In this case, diagnosis was made before birth, through chorion villus sampling. CASE REPORT A 16 month-old Italian male with 47 XXY syndrome showed the absence of primary te...

Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle st...

Disorders of androgen excess may coexist with disorders of androgen deficiency, such as Klinefelter syndrome, and can create diagnostic and therapeutic challenges.

We report a case of double male syndrome, a type of Klinefelter syndrome with 48, XXYY chromosome. The case had been referred to our department because of severe mental retardation and behavioural and psychiatric problems. In the karyotype analysis, the chromosome constitution of that 16–year–old case was revealed as 48, XXYY, fra 2q (32.2–32.3). More than 70 patients with 48, XXYY chromosome c...

For many patients who require an allogeneic stem cell transplant, a human leukocyte antigen (HLA)-matched sibling or an appropriate unrelated donor can be identified. However, there are some pediatric patients who require transplantation for whom the best outcome and/or the only option is the collection of umbilical cord blood following the birth of an HLA identical sibling. This scenario occur...

© 2010 Michael Noble Revised version (unpublished) Page

Holoprosencephaly (HPE) is a malformation that arises during the first 4 weeks of embryonic development (blastogenesis)[1] caused by a failure or incomplete division of the prosencephalon into cerebral hemispheres. This defect is frequently associated with other facial anomalies such as anophthalmia, cyclopia, proboscis, midface clefting, hypertelorism, single maxillary central incisor, and abs...