The presence of an isochromosome Xq in Klinefelter syndrome (KS) is an apparently rare condition. In all cases reported so far, patients showed the classic phenotype. We here describe a case of isochromosome Xq [47,X,i(Xq),Y] in a non-mosaic KS patient. The patient exhibited a normal androgenized phenotype, normal testes and normal cognitive abilities. Semen analysis revealed a medium oligozoos...

background: dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. the dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. our objective was to assess dermatoglyphics study results against standard chromosomal an...

Diffuse large B cell lymphoma (DLBCL) is a frequent aggressive subtype of non-Hodgkin lymphoma, representing nearly 30-40% all cases. The skin may be affected by the disease either primarily or secondarily. Herein we report clinical and dermoscopic case metastasis DLBCL in patient with Klinefelter Syndrome.

Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosom...

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...

© 2010 Michael Noble Revised version (unpublished) Page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...

OBJECTIVES.: The aim of this work is to describe the problems of child dentistry affected by Klinefelter's syndrome. METHODOS.: Through the presentation of a clinical case that was followed by a Pediatric Dentistry, University Sapienza of Rome. RESULT.: Interceptive therapy aims to eliminate the functional interference that occurs during growth. CONCLUSION.: For this reason it's a must for t...