Beej Shudhi@360

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most genetic disorders are quite rare and affect one person in every several thousands or millions. Genetic disorders may be hereditary, passed down from the parents' genes. In other genetic disorders, defects may be caused by new mutations or changes to the DNA. In such cases, the defect will only be passed down if it occurs in the germ line.

The same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and mainly by environmental causes in other people. Whether, when and to what extent a person with the genetic defect or abnormality will actually suffer from the disease is almost always affected by the environmental factors and events in the person's development.

Refrences

• The Screening and Diagnosis of Autistic Spectrum Disorders
  Pauline A. Filipek and et al Journal of Autism and Developmental Disorders
  December 1999, Volume 29, Issue 6 , pp 439–484
• The genetics of asthma.
  A Sandford and et al American Journal of Respiratory and Critical Care Medicine vol.153,no.6/Jun 1996
• Down syndrome in british columbia, 1952‒73: Incidence and mean maternal age
  R. B. Lowry and et al Birth defects research Volume 14, Issue 1 August 1976 Pages 29–34
• Genetic Modifiers of Lung Disease in Cystic Fibrosis
  Mitchell L. Drumm, Ph.D New England Journal of Medicine; 353:1443-1453 6 October 2005
• Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
  Rita Singh MBBS, MD, and et al Annals of Neurology Volume 45, Issue 1 January 1999 Pages 75–81
• The inherited diseases of hemoglobin ( Thalassemia ) are an emerging global health burden
  David. J. Weatherall Blood 2010 115:4331-4336;
• Sickle Cell Disease: Genetics, Cellular and Molecular Mechanisms, and Therapies Betty S. Pace and et al
  Anemia Volume 2012 (2012), Article ID 143594, 2 pages
• Cloning of the breakpoint of an X;21 translocation associated with Duchene muscular dystrophy.
  Ray PN and et al Nature 1985, 31 (6047) : 672-675
• Klinefelter syndrome and other sex chromosomal aneuploidies Jeannie Visootsak and et al
  Orphanet Journal of Rare Disorders. 2006; 1: 42.
• Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome.
  [Article in Spanish] Cortés M F and at al Revista Medica Chile. 2005 Jan;133(1):33-41.
• Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.
  Kaback MM European Journal of Pediatrics. 2000 Dec;159 Suppl 3:S192-5.
• Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.
  Prakash SK and et al American Journal of Medical Genetics Part A. 2016 Dec;170(12):3157-3164.
• Angelman syndrome (AS, MIM 105830)
  Griet Van Buggenhout1,* and Jean-Pierre Fryns1 European Journal of Human Genetics. 2009 Nov; 17(11): 1367–1373.
• Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: A genome-wide DNA methylation analysis.
  Wang L1, Lin S1, Zhang J1, Tian T1, Jin L1, Ren A1. Epigenetics. 2017 Jan 6:0.