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*  Aniridia - Wikipedia
Aniridia is a heterozygous disorder, meaning that only one of the two chromosome 11 copies is affected. When both copies are ... Aniridia may be broadly divided into hereditary and sporadic forms. Hereditary aniridia is usually transmitted in an autosomal ... In mice, homozygous small eye defect (mouse Pax-6) leads to loss of the eyes and nose and the murine fetuses suffer severe ... These patients often also have genitourinary abnormalities and intellectual disability (WAGR syndrome). Several different ...
  https://en.wikipedia.org/wiki/Aniridia
*  Genetic Disorders facts, information, pictures | Encyclopedia.com articles about Genetic Disorders
Make research projects and school reports about Genetic Disorders easy with credible articles from our FREE, online ... and pictures about Genetic Disorders at Encyclopedia.com. ... disorders are produced by abnormalities in chromosome structure ... and Figure 5.3 shows the hereditary hemochromatosis gene located on chromosome 6. Single-gene disorders are the result of ... or a total of three copies, of chromosome 21. Mitochondrial disorders result from mutations in the nonchromosomal DNA of ...
  http://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/genetic-disorders
*  Charcot-Marie-Tooth Disease Fact Sheet | National Institute of Neurological Disorders and Stroke
Infants have severe muscle atrophy, weakness, and sensory problems. This rare disorder can be caused by a specific point ... CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders ... Each of us normally possesses two copies of every gene, one inherited from each parent. Some forms of CMT are inherited in an ... CMT2 results from abnormalities in the axon of the peripheral nerve cell rather than the myelin sheath. It is less common than ...
  https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet
*  Barth Syndrome - Causes, Symptoms, Diagnosis, Treatment, Complications
Barth Syndrome is a rare congenital genetic disorder caused by an abnormality in the X chromosome. Find out about the symptoms ... but can cause severe genetic disorders or prenatal death when two copies are inherited. ... Barth Syndrome is a rare genetic disorder caused by an abnormality in the X chromosome. The condition is inherited, but is ... Metabolism abnormalities are also common in patients afflicted with Barth syndrome and this is because of an abnormality in the ...
  http://www.medindia.net/patients/patientinfo/barth-syndrome.htm
*  Centronuclear myopathy
... is a rare disorder described in the database for rare diseases of the Swedish National Board of Health ... Men have one X chromosome and one Y chromosome, while women have two X chromosomes. Inherited X-linked recessive disorders ... The most severe form of the disease is myotubular myopathy, inherited via the X chromosome. The term myotubular refers to the ... In each pregnancy with the same parents there is a 25 per cent risk that the child will inherit double copies of the mutated ...
  http://www.socialstyrelsen.se/rarediseases/centronuclearmyopathy1
*  Alport syndrome - Wikipedia
A condition is considered X-linked if the gene involved in the disorder is located on the X chromosome. In males, who have only ... one X chromosome, one altered copy of the COL4A5 gene is sufficient to cause severe Alport syndrome, explaining why most ... Zhang KW, Colville D, Tan R, Jones C, Alexander SI, Fletcher J, Savige J (2008). "The use of ocular abnormalities to diagnose X ... Alport syndrome can also be inherited in an autosomal recessive pattern if both copies of the COL4A3 or COL4A4 gene, located on ...
  https://en.wikipedia.org/wiki/Alport_syndrome
*  Alport Syndrome - NORD (National Organization for Rare Disorders)
... particularly if the inactivation of one copy of the X chromosome is significantly "skewed" in favor of one of the copies. If ... X-linked disorders cause more severe symptoms in affected males than in affected females. Females have two X chromosomes in ... Alport syndrome is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the ears and eyes. ... Clinical manifestations, diagnosis and treatment of hereditary nephritis (Alport syndrome). UpToDate, Inc. last updated: Dec 8 ...
  https://rarediseases.org/rare-diseases/alport-syndrome/
*  Genetic disorder - Wikipedia
X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few disorders have this inheritance ... Genetic disorders may be hereditary, passed down from the parents' genes. In other genetic disorders, defects may be caused by ... Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person ... A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is ...
  https://en.wikipedia.org/wiki/Genetic_disorder
*  NewYork-Presbyterian Queens - Hereditary Hemochromatosis
Untreated or severe hemochromatosis may lead to the following:. *Liver function abnormalities and enlargement ... Hereditary hemochromatosis is one of the most common genetic disorders in the U.S. It is a metabolic disorder that causes ... Autosomal means that the gene is on one of the first 22 pairs of chromosomes, and not on the X or Y chromosome. Therefore, ... Recessive means that two copies of the gene, one inherited from each parent, are necessary to have the condition. Once parents ...
  http://www.nyhq.org/diw/content.asp?pageid=P03215
*  Human genome : Wikis (The Full Wiki)
Genetic disorders. For more details on this topic, see Genetic disorder.. These conditions are caused by abnormal expression of ... Each chromosome contains various gene-rich and gene-poor regions, which seem to be correlated with chromosome bands and GC- ... Defective genes can be inherited from the parents, in which case it is known as a hereditary disease. There are around 4,000 ... Disease-causing mutations in specific genes are usually severe in terms of gene function, and are fortunately rare, thus ...
  http://www.thefullwiki.org/Human_genome
*  Prader-Willi Syndrome - NORD (National Organization for Rare Disorders)
... the affected person inherits two copies of chromosome 15 from the mother and no copy of the father's chromosome 15 (referred to ... PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the ... Infantile hypotonia, which is often severe, is a near universal feature of the disorder. Hypotonia can be present before birth ... uniparental disomy 14 and several other different chromosomal alterations besides chromosome 15, Albright hereditary ...
  https://rarediseases.org/rare-diseases/prader-willi-syndrome/
*  Glossary of terms<...
Down's syndrome - A chromosome abnormality in which there are three copies of chromosome 21 instead of two. It is also called ... Genetic Anomaly - A disorder arising from an anomaly in the chromosomes which may or may not be hereditary. ... Some babies can be cared for at home and may live longer than first predicted but with very severe disabilities. ... Detailed ultrasound scanning is the way in which these abnormalities are confirmed. Most NTDs are 'open' which means that there ...
  http://www.arc-uk.org/tests-explained/glossary-of-terms
*  Genetic and Medical Glossary - alphabetical vocabulary listing
chromosomal disorder caused by mutations in the FMR1 gene on the X chromosome, resulting in an increased number of copies of a ... Albright hereditary osteodystrophy. genetic condition characterized by short stature, bone and tooth abnormalities and ... genetic disorder in which there is an extra copy of chromosome 13; generally causes malformed, low set ears, severe ... chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12; symptoms may include a coarse ...
  https://chromodisorder.org/genetic-and-medical-glossary/
*  Birth Defects | Encyclopedia.com
Turner's syndrome is another sex chromosome disorder, with a karyotype of 45. In this condition, one X chromosome is missing. ... If both parents are affected, there is a 25 percent chance that an offspring will inherit two gene copies and develop severe, ... or relatives have hereditary abnormalities. ... Chromosome abnormalities. Some birth defects are caused by ... The most common chromosomal abnormalities seen in humans involve an extra chromosome or a missing chromosome. Down syndrome ( ...
  https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/birth-defects
*  Genomic imprinting in diabetes | Genome Medicine | Full Text
... results from abnormalities of a region on chromosome 6q24 containing the imprinted genes PLAGL1 and HYMAI (the RNA gene ' ... and Albright hereditary osteodystrophy, due to mutations in an imprinted gene on chromosome 20q13.11. Reviews of these ... Butler MG: Genomic imprinting disorders in humans: a mini-review. J Assist Reprod Genet. 2009, 26: 477-486.PubMedPubMed Central ... In diploid organisms, such as humans, all somatic cells have two copies of the genome, one copy inherited from each parent. For ...
  https://genomemedicine.biomedcentral.com/articles/10.1186/gm176
*  Human genome : Map (The Full Wiki)
Each chromosome contains various gene-rich and gene-poor regions, which seem to be correlated with chromosome bands and GC- ... currently there are approximately 2,200 such disorders annotated in the OMIM database.. Studies of genetic disorders are often ... These variations include differences in the number of copies individuals have of a particular gene.. Variation. Most studies of ... Parents can be screened for hereditary conditions and counselled on the consequences, the probability it will be inherited, and ...
  http://maps.thefullwiki.org/Human_genome
*  Norrie disease - Wikipedia
The most severe problems are caused by chromosomal deletions in the region of the NDP gene, causing the prevention of the gene ... It is a very rare disorder that is not associated with any specific ethnic or racial groups. The most prominent symptoms of ... One possible scenario leading to this (unlikely) case would be if both of their copies of the NDP gene bear mutations, which ... In 1961, a Danish ophthalmologist named Mette Warburg reported about a Danish family that showed seven cases of a hereditary ...
  https://en.wikipedia.org/wiki/Norrie_disease
*  amniocentesis facts, information, pictures | Encyclopedia.com articles about amniocentesis
"Chromosome Disorders." In Harrison's Principles of Internal Medicine, ed. Eugene Braunwald, et al. Philadelphia: McGraw-Hill, ... By 1997, approximately 800 different diagnostic tests were available, most of them for hereditary genetic disorders such as Tay ... These cells are then tested for chromosome abnormalities or other genetic diseases. ... Down syndrome, or trisomy 21, usually results from three copies of chromosome 21. ...
  http://encyclopedia.com/medicine/divisions-diagnostics-and-procedures/medicine/amniocentesis
*  Congenital central hypoventilation syndrome
... is a rare disorder described in the database for rare diseases of the Swedish National Board of Health and Welfare. ... with severe constipation as a result. Severe cases of Hirschsprung disease may result in malnutrition and colon inflammation. ... This means that if one of the parents has the disorder, and so has one normal gene and one mutated gene, sons and daughters of ... Eye abnormalities, such as iris defects or asymmetric pupils, are sometimes present. Children with the syndrome may squint ( ...
  http://www.socialstyrelsen.se/rarediseases/congenitalcentralhypoventilati
*  Edwards' Syndrome - baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms
The extra chromosome is lethal for most babies born with this condition. It causes major physical abnormalities and severe ... Micrograph showing trisomy 18, three copies of chromosome 18 (green) in cell's nucleus (blue) versus the normal two. The two ... this may be hereditary), while 3 percent are mosaic trisomies, where the extra chromosome is present in some but not all of the ... Many people respond with guilt, fear , or blame when a genetic disorder is manifested within a family. Support groups are good ...
  http://www.healthofchildren.com/E-F/Edwards-Syndrome.html
*  INTRODUCTOR Y BIOTECHNOLOGY (ABG 504) THEORETICAL MODULE BY
... abnormalities in chromosome 5 have been associated with periventricular heterotopia, a disorder characterized by abnormal ... But if DNA repair mechanisms fail, mutations can be passed along to future copies of the altered cell. Hereditary M utations ... They have discovered that in people with cri-du-chat syndrome, larger deletions tend to result in more severe intellectual ... Females have two copies of the X chromosome, but males have one Y and only one X chromosome - this difference in X chromosome ...
  http://spotidoc.com/doc/13866/introductor-y-biotechnology--abg-504--theoretical-module--by
*  Chromosome - Wikipedia
The Rare Chromosome Disorder Support Group Support for people with rare chromosome disorders. ... Other organisms have more than two copies of their chromosome types, such as bread wheat, which is hexaploid and has six copies ... Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although ... Affected individuals have wide-set eyes, a small head and jaw, moderate to severe mental health problems, and are very short. ...
  https://en.wikipedia.org/wiki/Chromosome
*  NIH Guide: EXPLORATORY GRANTS IN CHRONIC RENAL FAILURE IN CHILDREN
o The congenital nephrotic syndrome (CNS) locus has been assigned to chromosome 19q12-q13.1 on the basis of linkage analysis in ... This growth factor may offer promise in the treatment of selective growth disorders and protein catabolic states. o The Final ... Investigators may also obtain copies from these sources or from the program staff or contact person listed under INQUIRIES. ... suggest that the presence of the DD ACE genotype may shift IgAN from mild to severe, and nephropathy from subclinical to overt ...
  https://grants.nih.gov/grants/guide/rfa-files/RFA-DK-97-007.html
*  Alpha-1 Antitrypsin Deficiency - NORD (National Organization for Rare Disorders)
People who have two copies of the Z allele (ZZ) have severe deficiency of A1AT and are at high risk of developing emphysema. ... Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 ... Transplantation of a normal liver into an individual with A1AD should correct the liver abnormalities and restore the blood ... the SERPIN1A gene resides on the long arm of the 14th chromosome. ... Related Disorders. Symptoms of the following disorders can be ...
  https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency
*  Nutrients | Free Full-Text | Vitamin B12 Metabolism during Pregnancy and in Embryonic Mouse Models | HTML
... gait abnormalities, visual disturbances, memory loss and dementia. During pregnancy Cbl is essential, presumably because of its ... The transgene was found to be intact in the mouse model, with seven copies integrated at a single site in chromosome 3. The ... A hereditary cobalamin metabolic disorder associated with sudden death. Am. J. Med. Genet. 1989, 33, 555-563. [Google Scholar ... noted when antibodies that blocked their activities in yolk sac endoderm resulted in severe developmental abnormalities. ...
  http://www.mdpi.com/2072-6643/5/9/3531/htm