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*  congenital disorder
... multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an ... Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing ... or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes ... A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.[3] Birth defects ...
  https://en.wikipedia.org/wiki/Congenital_disorder
*  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 ... The gene involved in the disorder occurs only on the X chromosome, which is passed to the child by the mother. The Y chromosome ... 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
*  Babys genome deciphered prenatally from parents lab tests | UW News
These new tests search for just a few genetic disorders or specific congenital abnormalities. For example, a test targeted for ... Down syndrome would look for evidence of three copies of chromosome 21. ... Although each specific disorder is rare, in aggregate single-gene diseases, also called Mendelian disorders because of their ... Because de novo mutations underpin a substantial proportion of dominant genetic disorders, searching for them is critical to ...
  http://www.washington.edu/news/2012/06/06/babys-genome-deciphered-prenatally-from-parents-lab-tests/
*  Genetic disorders
... can be divided in three different categories: single gene , chromosomal or complex disorders. ... A genetic disorder is a disease caused by changes, or mutations, in an individual's DNA sequence. ... Changes in the number of chromosomes happen when there are more or fewer copies of a particular chromosome than usual. Changes ... and most common developmental abnormalities, such as cleft lip and congenital heart defects, have a strong genetic component ...
  http://www.geneticalliance.org.uk/information/learn-about-genetics/genetic-disorders/
*  GENE.00021 Chromosomal Microarray Analysis (CMA) for Developmental Delay, Autism Spectrum Disorder, Intellectual Disability ...
Congenital anomalies (also known as birth defects, congenital disorders or congenital malformations) are structural or ... limitations of array-based technology for utilization in medical genetics practice for detection of chromosome abnormalities. ... Copy Number Variants (CNVs): An alteration of the DNA of a genome that results in the cell having an abnormal number of copies ... Specific chromosomal abnormalities are associated with specific congenital abnormalities. For example, Down syndrome is ...
  https://www.unicare.com/medicalpolicies/policies/mp_pw_c139365.htm
*  Lect. 19 - Developmental Disorders Flashcards by Kathleen McKenzie | Brainscape
Involves a change in chromosome number beyond the 2N state. 80-90% of fetuses w/ Aneuploidy and other abnormalities of ... Inherited disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestine. Inherited in an ... Congenital deficiency of phenylalanine 4-monooxygenase. Causes inadequate formation of L-tyrosine, elevation of serum L- ... autosomal recessive manner w/ mutations in both copies of the CT transmembrane conductance regulator protein gene. ...
  https://www.brainscape.com/flashcards/lect-19-developmental-disorders-4932632/packs/7200604
*  Treatment Online
... abnormalities in the 16th have been linked to a number of developmental disorders as well as physical abnormalities like ... In a closely related variation, several of the autistic children in the study group had two copies of the given chromosome. In ... and further testing using chromosome 16 as a springboard will inevitably teach us more about the disorder as a whole. If the ... underdeveloped lungs, congenital heart defects and asymetrical facial features. None of the parents of these children bore the ...
  http://www.treatmentonline.com/blog/index.asp?blog_id=2008
*  KBG Syndrome - NORD (National Organization for Rare Disorders)
KBG syndrome is a rare genetic disorder characterized by short stature, dental abnormalities, developmental abnormalities of ... Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and ... Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the ... KBG syndrome is caused by a change (mutation) in the ANKRD11 gene or a loss of genetic material (microdeletion) on chromosome ...
  https://rarediseases.org/rare-diseases/kbg-syndrome/
*  Trisomy 18 | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
chromosome disorder. characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Signs and symptoms ... congenital heart defects. ; and various abnormalities of other organs. . Trisomy 18 is a life-threatening condition; many ... Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) c/o Barb Vanherreweghe 2982 South Union Street Rochester ... 18 is caused by having 3 copies of chromosome 18 in each cell. in the body, instead of the usual 2 copies. The extra genetic ...
  https://rarediseases.info.nih.gov/diseases/6321/resources
*  Birth defect - Simple English Wikipedia, the free encyclopedia
There are two main types of congenital defect. The first is caused by genetic abnormalities, which are hereditary. The second ... The most common chromosomal disorder is Down syndrome ('Mongolism'). This condition happens when a child has three copies of ... Chromosome defects[change , change source]. Another type of genetic defect is caused by errors in chromosome copying during the ... Therefore, genetic disorders have grown as a proportion of the total congenital defects. ...
  https://simple.wikipedia.org/wiki/Birth_defect
*  Birth defect - Wikipedia
... deformations and chromosomal abnormalities Idiopathic List of congenital disorders List of ICD-9 codes 740-759: Congenital ... Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of ... Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing ... be environmental causes for congenital disorders. Rubella is known to cause abnormalities of the eye, internal ear, heart, and ...
  https://en.wikipedia.org/wiki/Birth_defect
*  What Does It Mean When Your Baby Is Born With An Extra Chromosome?
An extra chromosome also called trisomy can cause a wide range of developmental disorders. Learn about trisomy conditions in ... Congenital heart disorders. *Neural tube defects. Babies with Trisomy 18 or 13 do not usually survive beyond neonatal stage; 20 ... 6. What is Isodicentric chromosome 15 syndrome?. Isodicentric chromosome 15 syndrome is a developmental disorder with symptoms ... "Our study is the first to look at the effects of diet on chromosomal abnormalities in sperm. These abnormalities would cause ...
  http://www.momjunction.com/articles/baby-is-born-with-an-extra-chromosome_00118040/
*  Microdeletion syndromes (chromosomes 12 to 22)
... are usually microscopically visible on chromosome-banded karyotypes. Microdeletions, or submicroscopic deletions, are ... Chromosome deletions that span at least 5 megabases (Mb) ... and 'Sex chromosome abnormalities' and 'Congenital cytogenetic ... Assessment of sleep disorders in children. *Autism spectrum disorder: Diagnosis. *Autism spectrum disorder: Screening tools ... Copy number variations (CNVs) are submicroscopic genomic differences in the number of copies of one or more sections of DNA ...
  http://www.uptodate.com/contents/microdeletion-syndromes-chromosomes-12-to-22
*  Congenital Fiber Type Disproportion - NORD (National Organization for Rare Disorders)
Recessive genetic disorders are disorders in which individuals only develop the disorder when they inherit two abnormal copies ... X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X ... This same pattern of abnormalities can occur with a number of other, defined neurological conditions and it is important that ... the disorder can also occur in association with many other disorders or conditions including other congenital muscle disorders ...
  https://rarediseases.org/rare-diseases/congenital-fiber-type-disproportion/
*  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 ... Barth Syndrome is a rare genetic disorder caused by an abnormality in the X chromosome. The condition is inherited, but is ... but can cause severe genetic disorders or prenatal death when two copies are inherited. ... Congenital Heart Disease. Heart diseases that are present at birth are called " Congenital heart diseases". ...
  http://www.medindia.net/patients/patientinfo/barth-syndrome.htm
*  Molecular Genetics/DNA - Wake Forest Baptist, North Carolina
... occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other ... Neuromuscular Disorders Myotonic Dystrophy Myotonic dystrophy (DM) is a multi-system disorder that affects skeletal muscle and ... Alternatively, such children may have a spectrum of disorders not related to CF, including immunologic abnormalities, ciliary ... Test: Postnatal/Congenital DNA Analysis - Blood / Tissue / Buccal Smear Molecular Genetic Testing. Purpose of Test: To identify ...
  http://www.wakehealth.edu/Medical-Genetics/Molecular-Genetics--DNA.htm
*  Down syndrome | congenital disorder | Britannica.com
Congenital disorder caused by an extra chromosome on the chromosome 21 pair, giving the person a total of 47 chromosomes rather ... It involves an error in the division of chromosome 21 that results in trisomy (three copies of a chromosome instead of two are ... childhood disorders (in childhood disease and disorder: Chromosomal disorders) *ethical and legal considerations (in ethics: ... genetic basis (in human genetic disease: Numerical abnormalities) *chromosomal disorder (in chromosomal disorder) ...
  https://www.britannica.com/science/Down-syndrome
*  Congenital Lactic Acidosis - NORD (National Organization for Rare Disorders)
Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each ... X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females ... motor abnormalities, behavioral issues, abnormalities of the face and head and, ultimately, multi-organ failure. In some ... If a male with an X-linked disorder is able to reproduce, he will pass the altered gene to all of his daughters who will be ...
  https://rarediseases.org/rare-diseases/congenital-lactic-acidosis/
*  5+ Highly Common Platelet Disorders | Thrombocytes
With over 99% of cases, the disorder is inherited in an autosomal recessive way, which means there are two copies of the ... Abnormalities of the hands and forearms. *In every third patient, there are disorders of the reproductive organs and the gonads ... There may also be spina bifida (split spine), Klippel-Feil syndrome (congenital fusion of 2 cervical vertebrae), supernumerary ... It is due to a mutation in a gene on the X chromosome (X-linked recessive disease mode of inheritance). ...
  https://www.thrombocyte.com/common-platelet-disorders/
*  Why Study Meiosis? - Welcome to the Mogessie Lab
... segregation during meiosis has immense clinical relevance in the treatment of human infertility and congenital disorders. ... Chromosome segregation errors during meiosis very frequently give rise to aneuploidy in eggs, a chromosomal abnormality where ... where three copies of a specific chromosome are present instead of two. In spontaneous abortions, trisomies of chromosomes 16, ... In particular, trisomy 21 causes a genetic disorder known as Down syndrome which is associated with intellectual disability, ...
  https://eggsnchromosomes.com/why-study-meiosis/
*  Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry
To our knowledge, he is the first individual reported to have an autism spectrum disorder with this chromosome 16 ... Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains ... Each mitochondrion contains 2-10 mtDNA copies. In humans, 100-10,000 separate copies of mtDNA are usually present per cell [50 ... and is on the increase with a higher prevalence than reported for congenital brain malformations or Down syndrome. Better ...
  https://www.hindawi.com/journals/aurt/2012/242537/
*  Potocki-Lupski syndrome - Wikipedia
Both syndromes are characterized by multiple congenital abnormalities and mental retardation. A key feature which appears in 80 ... with one copy of the RAI1 gene and 3 copies of each of the other 18 genes in the described translocated region of chromosome 11 ... It is therefore believed that RAI1 is the critical gene involved in these disorders; however, since no cases of RAI1 ... attention-deficit disorder, obsessive-compulsive behaviours, malocclusions, short stature and failure to thrive. After noting ...
  https://en.wikipedia.org/wiki/Potocki%E2%80%93Lupski_syndrome
*  Natural History Study of Smith-Magenis Syndrome - Full Text View - ClinicalTrials.gov
Congenital Abnormalities. Chromosome Aberrations. Chromosome Disorders. Disease. Pathologic Processes. Genetic Diseases, Inborn ... Parents of patients will be asked to provide copies of past medical records and tests results for review. They will provide a ... and a striking neurobehavioral phenotype that includes a circadian sleep disorder. The majority of cases (~90%) are due to de ... The deletion of chromosome 17p11.2 to find the gene or genes that cause SMS ...
  https://clinicaltrials.gov/ct2/show/NCT00013559?cond=%22Smith-Magenis+syndrome%22&rank=1
*  Genetic disorder - Wikipedia
X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few disorders have this inheritance ... Birth defects are also called congenital anomalies. Two copies of the gene must be mutated for a person to be affected by an ... A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is ... diagnosis of a genetic disorder is widely varied and dependent of the disorder. Most genetic disorders are diagnosed at birth ...
  https://en.wikipedia.org/wiki/Genetic_disorder
*  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 ... central nervous system and metabolic disorders, and occasionally chromosomal abnormalities ... a chromosomal disorder caused by an extra copy of chromosome 21; symptoms include intellectual impairment, congenital heart ... 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/