نتایج جستجو برای: linked recessive
تعداد نتایج: 255427 فیلتر نتایج به سال:
Turner syndrome is a commonly encountered chromosomal disorder affecting females, while Duchenne muscular dystrophy severe X-linked recessive males. Although theoretically possible, very few cases of DMD associated with have been reported. We report an 8 year old girl who presented rare association mosaicism (45X/46XringX) dystrophy.
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier females suggested an X-linked recessive inheritance pattern. Affected males presented with mental retardation accompanied by postaxial polydactyly and retinitis pigmentosa. Brain MRIs showed the presence of a "molar tooth sign," which classifies this syndrome as classic J...
objectives: hearing loss (hl) is the most common sensory disorder, and affects 1 in 1000 newborns. about 50% of hl is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (arnshl). in iran, hl is one of the most common disabilities due...
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%). Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%-30% develop renal fai...
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