Trisomy E (18) syndrome: clinical spectrum in 12 new cases, including chromosome autoradiography in 4.
نویسندگان
چکیده
منابع مشابه
Blood cell enzymes in trisomy E (18) syndrome.
Trisomy E (18) syndrome is associated with an extra number 18 chromosome, and though many of these patients can be readily recognized by their constellation of congenital defects, a chromosome analysis is usually required for confirmation. Because chromosome analysis still remains a fairly slow, expensive, and tedious examination, one purpose of the present study is to evaluate blood cell enzym...
متن کاملThe trisomy 18 syndrome
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the ...
متن کاملEdwards' Syndrome (Trisomy 18)
The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a...
متن کاملEdwards' Syndrome (Trisomy 18)
The Edwards' syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18. Mosaics can occur in about 5% of cases in which some cells are normal with 46 chromosomes and others have the extra chromosome. Partial trisomy 18 can (rarely) occur if a...
متن کاملTrisomy 18 (Edwards Syndrome)
John Hilton Edwards [7] first described the symptoms of the genetic disorder known as Trisomy 18?one of the most common forms of human trisomy, which occurs when cells have an extra copy of a chromosome, in 1960. Trisomy 18 [5], also known as Edwards Syndrome [6], occurs approximately once per 6000 live births and is second in frequency only to Trisomy 21, or Down?s Syndrome, as an autosomal tr...
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: 1970
ISSN: 1468-6244
DOI: 10.1136/jmg.7.4.363