De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
نویسندگان
چکیده
منابع مشابه
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic uncertainties exist, are discussed.
متن کاملSmith-Lemli-Opitz syndrome
Mayeda K, Weiss L, Lindahl R, Dully M. Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Ain J Humn Genet 1974:26:59-64. 2 Kivlin JD, Fineman RM, Williams MS. Phenotype variation in the del(12p) syndrome. Am J Med Genet 1985;22:769-79. 3 Magenis E, Brown M G. Chamberlin J. et al. Resolution of breakpoints in a complex rearrangement by use of multiple stai...
متن کامل[Smith Lemli-Opitz syndrome].
BACKGROUND Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase. SLOS has been subdivided into two types on the basis...
متن کاملThe Smith-Lemli-Opitz syndrome.
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in ver...
متن کاملReview article The Smith-Lemli-Opitz syndrome
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for aVected patients. Moreover, the recent recognition of the important role of cholesterol in vert...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1987
ISSN: 1468-6244
DOI: 10.1136/jmg.24.7.436