Turner syndrome case presentation
نویسندگان
چکیده
منابع مشابه
Bloom’s syndrome: A case presentation
Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...
متن کاملDown-Turner syndrome: case report and review.
We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can ...
متن کاملTurner syndrome.
Introduction Approximately 1 in 2,500 live female births is affected by Turner syndrome (TS), making it one of the more common genetic conditions encountered in pediatric practice. TS is caused by deletion of all (monosomy) or part (partial monosomy) of the second sex chromosome. Multiple body systems can be affected to varying degrees, presenting both diagnostic and management challenges for t...
متن کاملTurner syndrome
Turner's syndrome is a genetic disorder that affects only females. Turner syndrome is caused by a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. This condition occurs in about 1 out in 2,500 female live births worldwide (but it is much more common among miscarriages and s...
متن کاملTurner syndrome
Turner's syndrome is a genetic disorder that affects only females. Turner syndrome is caused by a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. This condition occurs in about 1 out in 2,500 female live births worldwide (but it is much more common among miscarriages and s...
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ژورنال
عنوان ژورنال: Journal of Cardiology & Current Research
سال: 2018
ISSN: 2373-4396
DOI: 10.15406/jccr.2018.11.00403