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Inheritance in Medical Dictionary

Autosomal dominant

... cause certain disease s. Autosomal dominant inheritance means that the gene is located on one of the ... Format ... Autosomal dominant inheritance refers to disorders that are expressed in the ... X-linked recessive Maternal (mitochondrial) inheritance ... Autosomal dominant A form ...

Autosomal recessive

... Autosomal recessive inheritance means that the gene is located on one of the ... For: search help ... Autosomal recessive inheritance refers to an inheritance pattern in which an affected person must be ...

Fragile X syndrome

... in males and a significant cause in females. The inheritance is different from common dominant or recessive inheritance patterns. Fragile X syndrome Dr Trisha ... defects in the chromosome or chromosomal inheritance (for example, fragile X syndrome , Angelman ...

Genetic

... research. Genetic s See all Pictures & Images Description The inheritance of genetic disease s, abnormalities, or traits is described by both the ... as being one of the most common genetic disorders . The process of inheritance is autosomal recessive . Genetic Disease s, Inborn - Disease s ...

Achondroplasia

... Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes ( chromosome pairs 1 through 22). Achondroplasia is caused by a genetic defect. It ...

Angelman Syndrome

... Angelman Syndrome ? Angelman syndrome is a chromosomal disorder caused by the absence of a gene . defects in the chromosome or chromosomal inheritance (for example, fragile X syndrome , Angelman syndrome , Prader-Willi syndrome ) ... ...

Ataxia

... Colorectal Cancer : Familial Adenoma tous Polyp osis (FAP) ... Ataxia Problems with coordination and walking . Autosomal dominant A form of inheritance in which only one copy of a gene coding for a disease need be present for that disease to be expressed. ATAXIA : Lack of voluntary muscle ...

Chromosomes

... . 1920 - Chromosomes are proposed as the mechanism by which inherited characteristics are passed on. 1944 - DNA is first connected to the inheritance of traits. 1951 - The first sharp X-ray diffraction photographs of DNA are obtained. Normally, an infant inherits one pair of sex ...

Cornelia De Lange Syndrome

... symptoms. We look at its effects, the possible causes and where you can find support. It is also associated with syndrome s without a familial inheritance pattern such as Cornelia de Lange syndrome . Half of ulnar club hand cases occur along with other malformations in the musculo skeletal system. ...

Craniosynostosis

... Craniosynostosis is a feature of many different genetic syndrome s that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present. Craniosynostosis can occur as an isolated abnormality or as ...

Etiology

... it or to give it form or consistency. The exact etiology (cause) of Madelung's is unknown. Most cases occur sporadically, without any defined inheritance pattern or known genetic association. paired box domain; paired organ elles; pair production; pair rule gene ; paisano; pajaroello; Pajot, ...

Genetic Disorders

... , or genetic disorders . Genetic haemochromatosis is now recognised as being one of the most common genetic disorders . The process of inheritance is autosomal recessive . This means that to develop the disease a person must inherit an abnormal gene from both parents. Huntington disease ...

Hunter syndrome

... syndrome (types A, B, C and D), Morquio, Maroteaux Lamy syndrome , Sly syndrome and MPS IX. The sole exception to autosomal recessive inheritance is MPS type II ( Hunter syndrome ). It is X-linked recessive. The Hunter gene is on the X chromosome . Mucopolysaccharidosis; Hunter syndrome ...

Lupus

... is an inflammatory disease that affects organ s throughout the body. Lupus is considered to be a multi factorial condition. Multi factorial inheritance means that "many factors" are involved in causing a health problem. Lupus discoide - Vista de las lesion es en el trax Lupus discoide en el ...

Mosaicism

... It appears to be more common among children born to older parents (both father and mother), in a pattern consi stent with autosomal dominant inheritance with germline mosaicism (for example, ... skull ; pigment patches of the skin ; and endocrine (hormonal) disease with early puberty ...

Multi

... make antibodies. Symptoms include bone pain , weakness , extreme thirst , nausea , frequent urination , and broken bones . Multi factorial inheritance means that "many factors" ( multi factorial) are involved in causing a birth defect. Multi - infarct dementia Definition: Multi - infarct ...

Muscular atrophy

... sclerosis ( ALS ) is the most common motor neuron disease , resulting in muscular atrophy . CMT exists in many forms, each different in inheritance pattern, age of onset, signs and symptoms, severity, and progression. Other names for CMT include hereditary motor and sensory neuropathy and ...

Pkd

... infection s, and high blood pressure . The adult form of PKD only requires one abnormal gene , which can come from either parent. This type of inheritance is called autosomal dominant . In this situation, the parent with the abnormal gene has PKD . ...

Pku

... of this enzyme , a recessive trait, prevents the body from making use of phenylalanine ... PKU is a genetic disorder with a recessive inheritance pattern. If both parents are carrier s (they have the gene , but not the disease ), each baby has a 25 percent chance of inheriting the disease , ...

Prader

... as Prader -Willi syndrome and Bardet-Biedl syndrome , affect a very small proportion of children. defects in the chromosome or chromosomal inheritance (for example, fragile X syndrome , Angelman syndrome , Prader -Willi syndrome ) ... ...

Prader-Willi syndrome

... as Prader-Willi syndrome and Bardet-Biedl syndrome , affect a very small proportion of children. defects in the chromosome or chromosomal inheritance (for example, fragile X syndrome , Angelman syndrome , Prader-Willi syndrome ) ... ...

Scleroderma

... fiber s that provide the framework and support for your body. Scleroderma is considered to be a multi factorial condition. Multi factorial inheritance means that "many factors" are involved in causing a health problem. Resources - scleroderma Information: The following organ izations are good ...

Zygote

... who have both genes in a pair with the same mutation . HomozygousWhen both genes in a pair have the same mutation . Autosomal dominant inheritance refers to disorders that are expressed in the hetero zygote , i.e., the affected person has one copy of a mutated allele and one allele that is ...
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