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Triple X Syndrome
Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 women but it is rarely diagnosed; fewer than 10% of those with the condition know they have it. Those who have symptoms can have learning disabilities, mild dysmorphic features such as hypertelorism (wide-spaced eyes) and clinodactyly (incurved little fingers), early menopause, and increased height. The average intelligence quotient (IQ) in trisomy X is 8590. As the symptoms of trisomy X are often not serious enough to prompt a karyotype test, many cases of trisomy X are diagnosed before birth via prenatal screening tests such as amniocentesis. Research on girls and women with the disorder finds that cases which were diagnosed postnatally, having been referred for testing because of obvious symptoms, are generally more severe than those diagnosed prenatally. Most wom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division (mitosis/meiosis). There are three forms of nondisjunction: failure of a pair of homologous chromosomes to separate in meiosis I, failure of sister chromatids to separate during meiosis II, and failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy). Calvin Bridges and Thomas Hunt Morgan are credited with discovering nondisjunction in ''Drosophila melanogaster'' sex chromosomes in the spring of 1910, while working in the Zoological Laboratory of Columbia University. Types In general, nondisjunction can occur in any form of cell division that involves ordered distribution of chromosomal material. Higher animals have three distinct forms of such cell divisions: Meiosis I and meiosis II are specialized forms of cell division occurring during generation of gametes (eggs and sperm) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Advanced Maternal Age
Advanced maternal age, in a broad sense, is the instance of a woman being of an older age at a stage of reproduction, although there are various definitions of specific age and stage of reproduction.Effect of advanced age on fertility and pregnancy in women at . Author: Ruth C Fretts. Section Editor: Louise Wilkins-Haug. Deputy Editor: Vanessa A Barss. This topic last updated: 3 December 2012. The variability in definitions is in part explained by the effects of increasing age occurring as a |
Lupus
Lupus, technically known as systemic lupus erythematosus (SLE), is an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue in many parts of the body. Symptoms vary among people and may be mild to severe. Common symptoms include painful and swollen joints, fever, chest pain, hair loss, mouth ulcers, swollen lymph nodes, feeling tired, and a red rash which is most commonly on the face. Often there are periods of illness, called flares, and periods of remission during which there are few symptoms. The cause of SLE is not clear. It is thought to involve a mixture of genetics combined with environmental factors. Among identical twins, if one is affected there is a 24% chance the other one will also develop the disease. Female sex hormones, sunlight, smoking, vitamin D deficiency, and certain infections are also believed to increase a person's risk. The mechanism involves an immune response by autoantibodies against a person's own tissues. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoimmune Disorder
An autoimmune disease is a condition arising from an abnormal immune response to a functioning body part. At least 80 types of autoimmune diseases have been identified, with some evidence suggesting that there may be more than 100 types. Nearly any body part can be involved. Common symptoms can be diverse and transient, ranging from mild to severe, and generally include low grade fever and feeling tired. The cause is unknown. Some autoimmune diseases such as lupus run in families, and certain cases may be triggered by infections or other environmental factors. Some common diseases that are generally considered autoimmune include celiac disease, diabetes mellitus type 1, graves' disease, inflammatory bowel disease, multiple sclerosis, alopecia areata, addison’s disease, pernicious anemia, psoriasis, rheumatoid arthritis, and systemic lupus erythematosus. The diagnosis can be difficult to determine. Treatment depends on the type and severity of the condition. Nonsteroidal a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genitourinary
The genitourinary system, or urogenital system, are the organs of the reproductive system and the urinary system. These are grouped together because of their proximity to each other, their common embryological origin and the use of common pathways, like the male urethra. Also, because of their proximity, the systems are sometimes imaged together. The term "apparatus urogenitalis" was used in ''Nomina Anatomica'' (under Splanchnologia) but is not used in the current ''Terminologia Anatomica''. Development The urinary and reproductive organs are developed from the intermediate mesoderm. The permanent organs of the adult are preceded by a set of structures that are purely embryonic and that, with the exception of the ducts, disappear almost entirely before the end of fetal life. These embryonic structures are on either side: the pronephros, the mesonephros and the metanephros of the kidney, and the Wolffian and Müllerian ducts of the sex organ. The pronephros disappears very ear ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radioulnar Synostosis
Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and ulna bones of the forearm. This can be present at birth (congenital), when it is a result of a failure of the bones to form separately, or following an injury (post-traumatic). It typically causes restricted movement of the forearm, in particular rotation (pronation and supination), though is not usually painful unless it causes subluxation of the radial head. It can be associated with dislocation of the radial head which leads to limited elbow extension. Types Congenital Congenital radioulnar synostosis is rare, with approximately 350 cases reported in journals, and it typically affects both sides (bilateral) and can be associated with other skeletal problems such as hip and knee abnormalities, finger abnormalities (syndactyly or clinodactyly), or Madelung's deformity. It is sometimes part of known genetic syndromes such as Klinefelter syndrome (48,XXXY variant), Apert, Will ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palpebral Fissure
The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open eyelids. In simple terms, it is the opening between the eyelids. In adult humans, this measures about 10 mm vertically and 30 mm horizontally. Variations Congenital dysmorphisms It can be reduced (short, "narrow") in horizontal size by fetal alcohol syndrome and in Williams syndrome. The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, whereas Marfan syndrome can cause a downslant. An increase in vertical height can be seen in genetic disorders such as cri-du-chat syndrome. Acquired The fissure may be increased in vertical height in Graves' disease, which is manifested as Dalrymple's sign. It is seen in disorders such as cri-du-chat syndrome. In animal studies using four times the therapeutic concentration of the ophthalmic solution latanoprost, the size of the palpebral fissure can be increased. The condition ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epicanthic Folds
An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight epicanthic folds" is noted in the relevant literature.Lang, Berel (ed.) (2000) ''Race and Racism in Theory and Practice'', Rowman & Littlefield, p. 10 Various factors influence whether epicanthic folds form, including ancestry, age, and certain medical conditions. Etymology ''Epicanthus'' means 'above the canthus', with epi-canthus being the Latinized form of the Ancient Greek : 'corner of the eye'. Classification Variation in the shape of the epicanthic fold has led to four types being recognised: * ''Epicanthus supraciliaris'' runs from the brow, curving downwards towards the lachrymal sac. * ''Epicanthus palpebralis'' begins above the upper tarsus and extends to the inferior orbital rim. * ''Epicanthus tarsalis'' originates at ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmorphism
A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Clinical geneticists and pediatricians are usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood. Dysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, syndrome or association. Recognizing the patterns of dysmorphic features is an im ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniofacial
Craniofacial (''cranio-'' combining form meaning head or skull + ''-facial'' combining form referring to the facial structures grossly) is an adjective referring to the parts of the head enclosing the brain and the face. The term is typically used to describe an area of focus for the study and treatment of certain congenital malformations or facial injuries. The first use of the term was 1859. The first PubMed citation with the use of the term Craniofacial was in 1876 by T. H. Huxley. See also *Craniofacial Team *Craniofacial surgery Craniofacial surgery is a surgical subspecialty that deals with congenital disorder, congenital and acquired deformity, deformities of the human head, head, human skull, skull, face, neck, jaws and associated structures. Although craniofacial treat ... References Oral and maxillofacial surgery {{Anatomy-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anglosphere
The Anglosphere is a group of English-speaking world, English-speaking nations that share historical and cultural ties with England, and which today maintain close political, diplomatic and military co-operation. While the nations included in different sources vary, the Anglosphere is usually not considered to include all countries where English is an official language, so it is not synonymous with anglophone, though the nations that are commonly included were all once part of the British Empire. The definition is usually taken to include Australia, Canada, New Zealand, the United Kingdom, and the United States in a grouping of developed countries called the core Anglosphere. This term can also encompass Republic of Ireland, Ireland and less frequently Malta and the Commonwealth Caribbean countries such as Antigua and Barbuda, the Bahamas, Barbados, Belize, Dominica, Grenada, Guyana, Jamaica, Saint Kitts and Nevis, Saint Lucia, Saint Vincent and the Grenadines, and Trinidad and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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