1,721,035 research outputs found
Terminal deletion of the short arm of chromosome 3
No full textDeletion of the short arm of chromosome number 3, has been proposed as a distinctive syndrome, all cases are (de novo) deletions and the band 3p26 was systematically involved. The comparative study of the 21 reviewed cases (including one reported here) allows to conclude that there is no consistent association to delineate a typical clinical syndrome
Terminal deletion of the short arm of chromosome 3
No full textDeletion of the short arm of chromosome number 3, has been proposed as a distinctive syndrome, all cases are (de novo) deletions and the band 3p26 was systematically involved. The comparative study of the 21 reviewed cases (including one reported here) allows to conclude that there is no consistent association to delineate a typical clinical syndrome
Current topics in Fabry disease [Aspectos de actualidad en enfermedad de Fabry]
No full textFabry disease is a lysosomal storage disease due to deficiency of the enzyme acid α-Galactosidase, which hydrolysis of globotriaosylceramide, causing its accumulation in cells and body tissues. Most males with classic phenotype have angiokeratoma, acroparesthesias, hypohidrosis and cornea verticilata childhood-onset, and have a marked decrease in life span, death occurs between the fourth and fifth decade of life secondary to renal, cardiovascular and cerebrovascular complications. Carriers female have a wide spectrum of disease severity, from asymptomatic to the presentation of characteristic symptoms as men. Currently, the treatment is enzyme replacement therapy. The aim of this paper is to present a current perspective and advances in Fabry disease
Current topics in Fabry disease [Aspectos de actualidad en enfermedad de Fabry]
No full textFabry disease is a lysosomal storage disease due to deficiency of the enzyme acid ?-Galactosidase, which hydrolysis of globotriaosylceramide, causing its accumulation in cells and body tissues. Most males with classic phenotype have angiokeratoma, acroparesthesias, hypohidrosis and cornea verticilata childhood-onset, and have a marked decrease in life span, death occurs between the fourth and fifth decade of life secondary to renal, cardiovascular and cerebrovascular complications. Carriers female have a wide spectrum of disease severity, from asymptomatic to the presentation of characteristic symptoms as men. Currently, the treatment is enzyme replacement therapy. The aim of this paper is to present a current perspective and advances in Fabry disease
[Current genetic issues and phenotypic variants in Kallmann syndrome]. [Síndrome de Kallmann. Aspectos genéticos y variantes fenotípicas.]
No full textKallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome
Virtual molecular medicine in developing countries: The Mexican initiative
No full text[No abstract available
[Current genetic issues and phenotypic variants in Kallmann syndrome]. [Síndrome de Kallmann. Aspectos genéticos y variantes fenotópicas.]
No full textKallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome
The Ohdo blepharophimosis syndrome in a Mexican boy
No full textThe clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis syndrome (OBS). Comparison with six previously described patients confirms that the OBS is mainly characterized by psychomotor and mental retardation, blepharophimosis, dental hypoplasia, deafness, and hypoplastic scrotum. The advanced age of this boy's father suggests a possible autosomal dominant mutation in the syndrome
The Ohdo blepharophimosis syndrome in a Mexican boy
No full textThe clinical picture of a 16-month-old Mexican boy (hypotonia, psychomotor retardation, blepharophimosis, small and widely spaced teeth, hypoplastic scrotum) was compatible with the diagnosis of Ohdo blepharophimosis syndrome (OBS). Comparison with six previously described patients confirms that the OBS is mainly characterized by psychomotor and mental retardation, blepharophimosis, dental hypoplasia, deafness, and hypoplastic scrotum. The advanced age of this boy's father suggests a possible autosomal dominant mutation in the syndrome
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