Genetic testing of children.

نویسنده

  • A Fryer
چکیده

15 Poulton J, Morten K, Brown G, Bindoff L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Human Molecular Genetics 1994; 3: 947-51. 16 Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 1993; 4: 289-94. 17 Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. AmJ Otolaryngol 1993; 14: 399-403. 18 Anonymous. Mitochondrial encephalomyopathies: gene location. Neuromuscul Disord 1995; 5: IX-XII. 19 Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11. 20 Casademont J, Barrientos A, Cardellach F, et al. Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Human Molecular Genetics 1994; 3: 1945-9. 21 Moraes CT, Shanske S, Tritschler HJ, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 1991; 48: 492-501. 22 Tritschler H-J, Andreetta F, Moraes CT, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1992; 42: 209-17. 23 Brown GK. Pyruvate dehydrogenase El alpha deficiency. J Inhenit Metab Dis 1992; 15: 625-33. 24 Holt U, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J7 Hum Genet 1990; 46: 428-33. 25 Tatuch Y, Robinson B. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem Biophys Res Commun 1993; 192: 124-8. 26 de Vries DD, van Engelen BG, Gabreels El, Ruitenbeek W, van Oost BA. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993; 34: 410-2.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Cord Blood Karyotyping: A Safe and Non-Invasive Method for Postnatal Testing of Assisted Reproductive Technology Children

Objective To verify the hypothesis that the incidence of chromosomal abnormalities increases in babies conceived by different assisted reproduction procedures. The availability of the umbilical cord blood encouraged us to study this hypothesis via this method. MaterialsAndMethods This is a descriptive study, umbilical cord blood samples of assisted reproductive technology (ART) children were an...

متن کامل

Report of Four Children with Gaucher Disease and Review of Literature

Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnos...

متن کامل

تحلیل ضمان قهری مشاور ژنتیک در رابطه با خطای تشخیص قبل از تولد

Genetic technology in the field of medical science has been one of the great revolutions which it is in progress in molecular and cellular biology and the human genome project. The progress in genetic testing gives people the authority to prevent that certain diseases and also prevent the birth of children with rare genetic disorders. With the advancement of the science, genetic counselors are ...

متن کامل

A Comparative Study on Presumption of Marriage Rule and Genetic Testing for Proving Parentage Under Iranian Law

Family is the most important social group, and the survival of society depends on the survival of the family and its survival depends on legitimate parentage and legal ties. Therefore, the issue of proving the parentage is one of the most sensitive issues in the Islamic law and the legislator has tried to preserve it by enacting laws. From the beginning of Islam until now, in Imami jurisprudenc...

متن کامل

O-16: Genetic Counseling and Necessity of Psychological Counseling Skills

Individuals who are at risk because of their family history or concerned about the possibility of having an affected child based any reasons are seeking solution approaches. Nowadays genetic counseling offers hope to prevent from suffering some genetic diseases. Advances in genetics diagnosis testing have played effective role in this regards. Interestingly, Preimplantation Genetic Testing woul...

متن کامل

Prenatal diagnostic tests of genetic disorders: review article

The purpose of prenatal diagnosis tests is insisting of diagnosis of neonatal disorders, preparing a range of informed choices and making couples at risk to be ready for having children with genetic disorders as well. The aim of this article is to investigate all of the tests in order to determine the best one which has the lowest risk and the highest sensitivity. Screening tests (maternal bloo...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Archives of disease in childhood

دوره 73 2  شماره 

صفحات  -

تاریخ انتشار 1995