Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.
نویسندگان
چکیده
منابع مشابه
Dmd065482 1838..1846
UDP-Glucuronosyltransferases (UGTs) conjugate a glucuronyl group from glucuronic acid to a wide range of lipophilic substrates to form a hydrophilic glucuronide conjugate. The glucuronide generally has decreased bioactivity and increased water solubility to facilitate excretion. Glucuronidation represents an important detoxification pathway for both endogenous waste products and xenobiotics, in...
متن کاملOne grand chain: the history of anaesthesia in Australia, 1846–1962, Volume 1: 1846–1934
selected bibliography. Although all multi-authored books display some historiographical and stylistic differences as well as duplication, Porter's ode to medicine's past, warts and all, will appeal to physicians, students, and informed laypersons. News that "painless surgery" under ether anaesthetic had been performed in America and Britain in late 1846 reached Australia within months, and just...
متن کاملThe Clift family correspondence 1792–1846
Arabic manuscripts (almost a third of McGill's Arabic holdings) comprising copies of 62 different works. The manuscripts collected by Osler were acquired mainly from a professional colleague in Hamadhan in western Iran; others were obtained later and originated in the collections of two well-known Islamists: the Russian scholar V. Ivanow, and the German physician and Arab medical historian Max ...
متن کاملTrisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
متن کاملSomatic Mosaicism and Disease
The large number of cell divisions required to make a human body inevitably leads to the accumulation of somatic mutations. Such mutations cause individuals to be somatic mosaics. Recent advances in genomic technology now allow measurement of somatic diversity. Initial studies confirmed the expected high levels of somatic mutations within individuals. Going forward, the big questions concern th...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1979
ISSN: 1468-6244
DOI: 10.1136/jmg.16.3.232