نتایج جستجو برای: x linked recessive
تعداد نتایج: 848601 فیلتر نتایج به سال:
keratosis follicularis spinulosa decalvans (kfsd) represents a rare, probably x-linked recessive genodermatosis, characterized by keratosis pilaris of face, trunk and extremities, followed by atrophy, cicatricial alopecia of the scalp, eyebrows and eyelashes, photophobia and corneal abnormalities. we report a rare case of kfsd and review the literature.
Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene
Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...
alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...
prenatal sex determination in suspicious cases of x-linked recessive diseases by the amelogenin gene
objective(s):to determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. materials and methods: after collection of 100 chorionic villi samples, the dnas were extracted and baby gender was determined. meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. results...
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
BACKGROUND Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated. Even though X-linked and autosomal recessive forms are phenotypically similar, identification of the way of transmission is mandatory to give reliable genetic counseling to the family and to address molecular studies. Complete examination of rela...
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