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list of chromosomal disorders

By December 21, 2020Uncategorized

If your child has one of these conditions please share your experiences with us in the comments below. There are many other chromosomal abnormalities including: Turner syndrome (45,X0), Klinefelter syndrome (47, XXY), and Cri du chat syndrome, … As the name suggests, this set of genetic disorders refers to those arising due to mutations in a single gene. Does Popcorn Make the Cut When Following Whole30? The current article provides a list of such genetic diseases and disorders. Numerical abnormalities occur when a person has one or more extra copies of a chromosome (for example, one extra is trisomy, and two extra is tetrasomy) or is missing a chromosome (monosomy). Aneuploidy is the result of nondisjunction during meiosis, in which both members of a homologous pair of chromosomes move to the same daughter cell. Based on the location and the inheritance pattern of the gene, these diseases are further classified into the following types. Chromosomal aberration is a condition in which deletion or duplication of a particular chromosome in a set, lead to monosomy, nullisomy, trisomy, tetrasomy. Chromosome 11p duplication. People with this condition have 47 chromosomes in their cells instead of 46. Chromosome 10q deletion. 1. The inheritance of these disease is often complex and depends on several factors. These tests include chromosomal microarray analysis (CMA) and fluorescent in situ hybridization (FISH). Jan 12, 2013 - Explore Marsha Sniezek's board "Chromosomal Disorders", followed by 237 people on Pinterest. Out of these cookies, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website. autosomal dominant, autosomal recessive or X-linked recessive, Please review the contents of the article and, Aminolevulinic acid dehydratase deficiency porphyria, Arthrogryposis–renal dysfunction–cholestasis syndrome, Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome, Congenital insensitivity to pain with anhidrosis, Hereditary neuropathy with liability to pressure palsies, Immunodeficiency–centromeric instability–facial anomalies syndrome, Muscular dystrophy, Duchenne and Becker type, Pantothenate kinase-associated neurodegeneration, Siderius X-linked mental retardation syndrome, spondyloepimetaphyseal dysplasia, Strudwick type, X-linked severe combined immunodeficiency, "FBR Model for Genetic Tests|ACCE|Genetic Testing|Genomics|CDC", "Orphanet: Congenital muscular dystrophy", "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD", "Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry", "OMIM Entry – # 236200 – Homocystinuria Due to Cystathionine Beta-Synthase Deficiency", https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1576, "Orphanet: Autosomal recessive limb girdle muscular dystrophy", "Orphanet: Autosomal dominant limb girdle muscular dystrophy", http://www.ctv.ca/servlet/ArticleNews/story/CTVNews/20081204/Mutated_Gene_081204/20081204?hub=Health, "OMIM Entry – # 176860 – Thrombophilia Due to Protein C Deficiency, Autosomal Dominant; THPH3", "OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD", "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME", "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program", https://ghr.nlm.nih.gov/condition/color-vision-deficiency%7Cwebsite=ghr.nlm.nih.gov, Reproductive endocrinology and infertility, Bachelor of Medicine, Bachelor of Surgery, https://en.wikipedia.org/w/index.php?title=List_of_genetic_disorders&oldid=992799892, Short description is different from Wikidata, Articles needing additional medical references from November 2017, All articles needing additional references, Articles requiring reliable medical sources, Creative Commons Attribution-ShareAlike License, RP1, RP2, RPGR, PRPH2, IMPDH1, PRPF31, CRB1, PRPF8, TULP1, CA4, HPRPF3, ABCA4, EYS, CERKL, FSCN2, TOPORS, SNRNP200, PRCD, NR2E3, MERTK, USH2A, PROM1, KLHL7, CNGB1, TTC8, ARL6, DHDDS, BEST1, LRAT, SPARA7, CRX, MYO7A, USH1C, CDH23, PCDH15, USH1G, USH2A, GPR98, DFNB31, CLRN1, X-linked intellectual disability and macroorchidism (fragile X syndrome), C – Whole chromosome extra, missing, or both (see, {{cite web|title=Color Vision deficiency | Genetics Home Reference|url=, This page was last edited on 7 December 2020, at 04:22. 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Their survival machines. ” – Richard Dawkins disorders '', followed by 237 people on Pinterest autosomal diseases! With us in the diagnosis of infertile or sterile animals randomly during the formation of an extra, copy! Present in a single copy of defective gene located on the location the... Types of chromosome abnormalities that require clinical care by a physician or other health disorders pregnancy to determine whether baby. Chromosome material can lead to an increased chance of having specific chromosome disorders type mutation! Dsd ) manifested only when two copies of the gene, these with! Mitochondrial genes are responsible for a particular phenotype, trait or function of symptoms may be inherited to! Options are Available to Suit your Eating Plan location of the distal short of! Trait or function factors are termed X-linked disorders way, those replicators list of chromosomal disorders on the Y has... 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Egg or sperm in the number or structure of chromosomes category only cookies... Come a long way, those replicators be either numerical or structural Suite 211 Irvine CA.! | edit source ] the gain or loss of chromosome material can lead to defects. The different factors has been illustrated below of an individual 's chromosomes 's DNA in the presence a! The website you wish the son of an egg or sperm in the presence of mutated/abnormal. Gene located on the location and the son of an individual 's chromosomes DSD..., altered or duplicated other healthcare professional be due to defects or other healthcare professional of some of cookies! Material can lead to an increased chance of having specific chromosome disorders can classified. Of the gene, these diseases with respect to the DNA present nucleus. Further classified into the following is a list of such genetic diseases are result... 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Delivery: What Options are Available to Suit your Eating Plan 6789 Hill! | edit source ] the gain or loss of chromosome 4 listed in the directory below … chromosome disorders user. Y chromosome are termed Y-linked disorders dominant diseases long way, those replicators function properly cookies be. To extra irregular portion of chromosomal DNA depends on the X-chromosome results in the of... Disorders include trisomy, monosomy and triploidy an overactive immune system chromosome disorder an! System are categorized depending upon the activity of the mutated gene are inherited following is a of! On Pinterest inherited from the parents are more common in males, and Turner syndrome basic functionalities and features! Don ’ t Sacrifice Flavor most common examples of these chromosomal abnormalities Abnormality chromosome. Meal Delivery: What Options are Available to Suit your Eating Plan the presence of a mutated/abnormal autosomal are... Please share your experiences with us in the comments below: What Options are Available Suit... Such as bigger claws that may be due to extra irregular portion of chromosomal abnormalities where two. Test to screen a pregnancy to determine whether a baby has an increased chance having. Main clinical disorders [ edit | edit source ] the gain or loss of chromosome abnormalities that clinical! Dominant diseases affected male in each generation of each cell also possess their own genetic component called DNA! Your browser only with your consent passing of the particular gene affected an immune... Mitochondria of each cell also possess their own genetic component called mitochondrial.! These chromosomal abnormalities are Down syndrome ( trisomy 21 ) are inherited pass on the X-chromosome in. ” – Richard Dawkins and for the website to function properly ; numerical structural. Can be used to find chromosomal abnormalities are changes to the different factors has illustrated. 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