Fragile X Syndrome: Difference between revisions

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{{External Links}}
{{External Links}}


* [http://www.fragilex.org.au Fragile X Association of Australia]
* USA - [http://www.fragilex.org National Fragile X Foundation]
* Australia - [http://www.fragilex.org.au Fragile X Association of Australia]
 


{{Glossary}}
{{Glossary}}

Revision as of 16:33, 20 July 2012

Introduction

X-Linked recessive (affected father)

Fragile X Syndrome (Mental Retardation, X-linked, associated with marXq28, X-linked mental retardation and macroorchidism, Marker X syndrome, Martin-Bell syndrome).

Most cases result from the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, leading to repression of FMR1 transcription and subsequent decreased protein levels in the brain.

International Classification of Diseases code (Q99.2 Fragile X chromosome Fragile X syndrome).


Undergraduate Science students project 2011 Fragile X Syndrome.

Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | trisomy mosaicism | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | VACTERL | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics
Diagnosis Links: Prenatal Diagnosis | pregnancy test | amniocentesis | chorionic villus sampling | ultrasound | Alpha-Fetoprotein | Pregnancy-associated plasma protein-A | Fetal Blood Sampling | Magnetic Resonance Imaging | Computed Tomography | Non-Invasive Prenatal Testing | Fetal Cells in Maternal Blood | Preimplantation Genetic Screening | Comparative Genomic Hybridization | Genome Sequencing | Neonatal Diagnosis | Category:Prenatal Diagnosis | Fetal Surgery | Classification of Diseases | Category:Neonatal Diagnosis

Some Recent Findings

Recent References | References | PubMed

Karyotype

International Classification of Diseases

The International Classification of Diseases (ICD) World Health Organization's classification used worldwide as the standard diagnostic tool for epidemiology, health management and clinical purposes. This includes the analysis of the general health situation of population groups. It is used to monitor the incidence and prevalence of diseases and other health problems. Within this classification "congenital malformations, deformations and chromosomal abnormalities" are (Q00-Q99) but excludes "inborn errors of metabolism" (E70-E90).

Q99 Other chromosome abnormalities, not elsewhere classified

  • Q99.2 Fragile X chromosome Fragile X syndrome


ICD-10

Associated Congenital Abnormalities

Prevalence

Screening

Screening By Country

Mouse Model

References

  1. <pubmed></pubmed>

Journals

NCBI Bookshelf

  • Modern Genetic Analysis Griffiths, Anthony J.F.; Gelbart, William M.; Miller, Jeffrey H.; Lewontin, Richard C. New York: W. H. Freeman & Co.; c1999.
  • Introduction to Genetic Analysis 7th ed. Griffiths, Anthony J.F.; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M. New York: W. H. Freeman & Co.; c1999.
  • Clinical Methods 3rd ed. Walker, H.K.; Hall, W.D.; Hurst, J.W.; editors Stoneham (MA): Butterworth Publishers; c1990 Table - Recognizable Genetic Conditions

Reviews

<pubmed></pubmed> <pubmed></pubmed>


Articles

<pubmed></pubmed>

Associated Neurological

<pubmed></pubmed> <pubmed></pubmed> <pubmed></pubmed> <pubmed></pubmed>

Books

Note: books are listed for educational and information purposes only and does not suggest a commercial product endorsement.

OMIM

Search PubMed

Search PubMed Now: Fragile X Syndrome

External Links

External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.


Glossary Links

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Cite this page: Hill, M.A. (2024, March 29) Embryology Fragile X Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Fragile_X_Syndrome

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G