Clinical, cytogenetic and molecular aspects of the fragile-X syndrome

  • 151 Pages
  • 2.20 MB
  • 1087 Downloads
  • English
by
Uitgeverij Thesis , Amsterdam/Haarlem
Cytogenetics, Fragile X syndrome, X chromosome -- Abnormal
StatementH. Veenema.
Classifications
LC ClassificationsRJ506F73 V44 1989
The Physical Object
Pagination151 p. :
ID Numbers
Open LibraryOL14690258M
ISBN 109051700091
OCLC/WorldCa20462206

Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options.

This study is focused on deter Cited by: 5. Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting – men and – women.

It is caused by an alteration of the FMR1 gene, which maps at the Xq band: more than 99% of individuals have a CGG expansion (> triplets) in the 5′ UTR of the gene, Cited by: A Goldman, T Jenkins and A Krause, Molecular evidence that fragile X syndrome occurs in the South African black population., Journal of Medical Genetics, /jmg, 35, 10, (), ().Cited by:   This is the third edition of a book that is already well known to clinical geneticists and genetic counsellors.

Probably, just as many scientists from the cytogenetic and DNA laboratories are familiar with the title. The first edition was printed inat the same time that the mutation cytogenetic and molecular aspects of the fragile-X syndrome book causes fragile X syndrome was identified.

When the second edition appeared inmuch more could Cited by: 1. Since then, novel discoveries in the clinical, cytogenetic, and molecular aspects of Fragile X, including the identification of the associated fragile site in and the reporting of Fragile X as the first known trinucleotide repeat disorder inhave kept attention focused on this complex and ever-perplexing condition.

Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway.

"The second edition of Fragile X Syndrome includes updated chapters on the cytogenetic and molecular biology of the FXS mutation and premutation. The first half addresses the diagnosis and research aspects and is well referenced.

Summary: Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options.

The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. Clinical, cytogenetic, and molecular analysis of three families with FRAXE. A J Barnicoat, Q Wang, J Turk, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, et al.

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. Dec 12; (24)–   FRAGILE XA SYNDROME appeared on the cytogenetic scene in the late s, although by the mids it occupied a predominantly molecular genetic stage. But it is entirely appropriate that it retains a place cytogenetic and molecular aspects of the fragile-X syndrome book, and indeed a whole chapter.

Fragile XA syndrome (or simply fragile X syndrome; FXS, in common parlance) is the second most prevalent genetic cause of.

Molecular studies of the FMR-1 gene showed the typical full mutations as seen in fragile X syndrome males.

Download Clinical, cytogenetic and molecular aspects of the fragile-X syndrome EPUB

Molecular analysis of the 15q region, which is deleted in the majority of classical. was noted, and fragile X syndrome began to be de-fined. Since that time, the cytogenetic, molecular, and clinical features of the condition have been more clearly defined,3 and it is now recognized as the most common hereditary cause of mental retardation.

Its. (William O. Walker, Doody's Book Reviews) "I strongly encourage genetic counselors and clinical geneticists to invest in a copy of this book.

It is an invaluable resource on all aspects of Fragile X syndrom from genetic counceling, molecular testing, and prenatal diagnosis, to the latest treatment, education, and interventional s: 1.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. It is most frequently caused by an abnormal expansion of the CGG trinucleotide repeat (> repeats) located in the promoter of the fragile X mental retardation gene (FMR1), resulting in promoter DNA hypermethylation and gene t clinical tests for FXS are technically challenging and.

Fragile X syndrome (an FMR1 –related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life.

Details Clinical, cytogenetic and molecular aspects of the fragile-X syndrome FB2

Girls can also be affected with developmental delay. Fragile X syndrome is the most common inherited form of mental retardation. Now substantially revised and updated, this acclaimed book discusses the clinical approach to diagnosing the disorder, supported by the latest research in epidemiology, molecular biology and genetics, and neuropsychology.

Fragile X syndrome: a review of clinical and molecular diagnoses Article (PDF Available) in Italian Journal of Pediatrics 43(1) December with Reads How we measure 'reads'.

Fragile X syndrome (FX), also known as Martin Bell syndrome, is the most common cause of inherited mental retardation. It is an X-linked disorder with variable penetrance in which both males and females are affected.

Fragile X syndrome is caused by a large expansion of a. Fragile X is the most common inherited cause of mental retardation with a prevalence of 1 in for males and 1 in to for females. The American College of Medical Genetics and Genomics has recommended diagnostic testing for fragile X in symptomatic persons, women with ovarian dysfunction, and persons with tremor/ataxia syndrome.

Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males is un while about two thirds of females are intellectually disabled.

Description Clinical, cytogenetic and molecular aspects of the fragile-X syndrome EPUB

Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social. Most of these are neuromuscular disorders, such as fragile X syndrome (FXS) and Huntington disease (HD).

this book helps users meet that challenge. Key Features. Includes over 1, multiple-choice, USMLE style questions to help readers prepare for specialty exams in Clinical Cytogenetics and Clinical Molecular Genetics; Designed to assist. Mutations in the FMR1 gene cause fragile X syndrome.

The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve es are critical for relaying nerve impulses.

During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq Clinical, psychometric, cytogenetic, and molecular studies were performed.

Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Fragile X Syndrome – Clinical and Molecular Aspects () – CD; (for students or professionals) Fragile X Syndrome is a stand-alone interactive CD-ROM integrating the genetics and clinical features of Fragile X syndrome.

The program covers clinical. Qin XB, Yang AD, Fei HB, et al. A study of fragile X syndrome in cytogenetics and clinical characteristics. Chinese Journal of Medical Genetics. ; Yang DT, Jia YF, Wu AH, et al. Prenatal screening and diagnosis for fragile X syndrome.

Chinese Journal of Reproductive Health. ; Zhao WQ, Guo WC. REVIEW Open Access Fragile X syndrome: a review of clinical and molecular diagnoses Claudia Ciaccio1, Laura Fontana2, Donatella Milani1, Silvia Tabano2, Monica Miozzo2 and Susanna Esposito3* Abstract Background: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the.

Fragile X syndrome is the most common inherited form of mental retardation. Now substantially revised and updated, this acclaimed book discusses the clinical approach to diagnosing the disorder, supported by the latest research in epidemiology, molecular biology and genetics, and : $ Journal of the American Medical Association, "This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of the various aspects of this condition."--William O.

Walker, Jr., Doody's Health Sciences Review, "The clinical and cytogenetic. Abstract. The first fragile site identified in humans was on chromosome 9q, as described by Dekaban in ().Fragile sites were an active area of cytogenetic research during the late s and most of the s stimulated by: a link between the fragile site at Xq27 and X-linked mental retardation, the discovery that fragile site expression was directly related to the tissue culture.

"I strongly encourage genetic counselors and clinical geneticists to invest in a copy of this book. It is an invaluable resource on all aspects of Fragile X syndrom from genetic counceling, molecular testing, and prenatal diagnosis, to the latest treatment, education, and interventional strategies.

Data was analyzed from patients with autistic traits tested using chromosome analysis and/or fluorescence in situ hybridization (FISH) and/or molecular testing for fragile X syndrome by Southern and PCR methods. The median age was 4 years. Sex ratio was males to 1 female [].This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of the various aspects of -- William O.

Walker, Jr. Doody's Health Sciences Review Includes updated chapters on the cytogenetic and molecular biology of the FXS mutation and. The Fragile X Syndrome - Clinical Overview; Laboratory Aspects of Prenatal Fra(X) Detection; Molecular Markers of Fragile X: Recent Research Developments; Molecular Markers of Fragile X: Application to Males at Risk in Fragile X Families; Genetic Epidemiology of the Fragile X Syndrome With Special Reference to Genetic Counselling; Cytogenetics.