Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
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چکیده
منابع مشابه
Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syn...
متن کاملLesch-Nyhan Syndrome
Alternative names: Historically, Lesch-Nyhan syndrome is the designated term for this disease. Lesch-Nyhan Disease (LND) and hypoxanthine-guanine phosphoribosyl transferase (HPRT, HGprt) deficiency are also used to describe this disease. In addition to the classic form of LND, Jinnah and others have characterized two variant forms of the disorder -these individuals have higher levels of enzyme ...
متن کامل[Lesch-Nyhan syndrome].
LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq27 localization chromosomal disorders chromosomal fragility, instability, breakage chromosome breakage syndromes foetal-amniotic biochemical data hypoxanthine-guanine phpsphoribosyltransferase defect (foetal) gene, structural-functional anomalies gene ana...
متن کاملCase report: the Lesch-Nyhan syndrome.
BACKGROUND The Lesch-Nyhan syndrome (LNS) is a rare x-linked excessive disorder of purine metabolism, caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT). CASE REPORT In January 2000 a 2 year old boy was referred to a paediatric dental office in Landshut, Germany, because of severe and repeated lip chewing and aggressive tongue biting. A medical history...
متن کامل[A case of Lesch-Nyhan syndrome].
Lesch-Nyhan 증후군은 성염색체 열성 유전질환으로, 퓨린 (purine) 대사 과정중 구제 및 재순환에 관여하는 효소인 hypoxanthine-guanine phosphoribosyl transferase(HPRT)의 완 전 결핍으로 인한 고요산혈증, 무도성 무정위운동(choreoathetosis), 연축성(spasticity), 정신지체, 강박적인 자해 행위 등의 임 상 증상들을 특징으로 하는 대사 이상 질환이다 1) . 1964년 Lesch와 Nyhan 1) 에 의해 특징적인 상기 증상을 보인 형제의 증례가 처음 보고되었고, 1967년 Seegmiller 등 2) 에 의하 여 이 병의 원인이 효소 HPRT의 완전 결핍으로 인한 것임이 밝혀졌다. 이후 분자유전학 기술의 발달로 HPRT 유전자가...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1977
ISSN: 1468-6244
DOI: 10.1136/jmg.14.2.100