| 영문 | trisomy | 한글 | 세염색체증 |
|---|---|---|---|
| 설명 | 이배수성 세포에 한 형의 제3염색체가 존재하는 것(2n+1). 즉, 상동염색체쌍 외에 한 개의 염색체를 여분으로 갖는 개체 또는 세포. 삼염색체라고도 한다. 여분으로 포함된 염색체가 상동염색체쌍 중 어느 한 염색체와 상동성이 있는 경우를 말한다. 상동성이 없을 때는 과잉염색체라고 한다. 추가되는 염색체는 상동염색체의 수만큼 가능하며, 1상동염색체가 세염색체로 되는 것 외에 복수의 염색체쌍이 세염색체로 되는 경우도 있다. 세염색체가 존재하면 감수분열에서는 특이한 3가염색체가 형성되고, 유전양식도 정상적인 2가염색체의 경우와 달리 3염색체성이 된다. 사람의 다운증후군은 제21의 세염색체에 원인이 있는 유전장애이다. |
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| ACD | 1) Absolute Cardiac Dullness; 절대심둔탁음 2) Anemia of Chronic Disease &nbs... |
|---|---|
| AD | 1) Alveolar Duct 2) Autosomal Dominant 3) Auris Dextra; Ri... |
| AR | 1) Aortic Regurgitation = AI Echo소견 &... |
| ABPA | actin-binding protein, autosomal form; allergic bronchopulmonary aspergillosis |
| ACHOO | autosomal dominant compelling helio-ophthalmic outburst [syndrome] |
| Ts16 | Trisomy 16 |
|---|---|
| Ts19 | Trisomy 19 |
| T21 | Trisomy 21 |
| AD | Autosomal Dominant |
| ADCA | Autosomal Dominant Cerebellar Ataxia |
| autosomal | Pertaining to an autosome. (05 Mar 2000) |
|---|---|
| autosomal dominant | <genetics> Requires only one affected parent have the trait to pass it to offspring. (02 Jan 1998) |
| autosomal gene | A gene located on any chromosome other than the sex chromosomes (X or Y). (05 Mar 2000) |
| autosomal recessive | <genetics> Mutation carried on an autosome that is deleterious only in homozygotes. (02 Jan 1998) |
| recessive, autosomal | A gene on a nonsex chromosome (an autosome) that expresses itself only when there is no different gene present at that locus (spot on the chromosome). For example, cystic fibrosis (cf) is an autosomal recessive disorder. A cf child has the cf gene on both chromosome 7's (and so is said to be homozygous for cf). (12 Dec 1998) |
| kidney, polycystic, autosomal dominant | A genetic disorder with autosomal dominant inheritance characterised by multiple cysts in both kidneys and progressive deterioration of renal function. It is usually caused by a mutant gene at the pkd1 locus on the short arm of chromosome 16, though mutations elsewhere in the genome can also cause the disease. The age of onset of symptoms varies widely. (12 Dec 1998) |
| kidney, polycystic, autosomal recessive | Rare genetic disorder with autosomal recessive inheritance characterised by multiple cysts in both kidneys and associated hepatic lesions. Serious manifestations are usually present at birth and there is high perinatal mortality. (12 Dec 1998) |
| syndrome, trisomy 13 | Condition with three rather than the normal two chromosomes 13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome 13. The congenital malformations (birth defects) commonly include scalp defects, more than haemangiomas more than (blood vessel malformations) of the face and nape of the neck, cleft lip more than and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. The mental retardation is profound. The iq is untestably low. The majority of trisomy 13 babies die soon after birth or in infancy. The condition is also called patau syndrome after the late geneticist klaus patau more than (at the university of wisconsin) who discovered the extra chromosome in 1960. (12 Dec 1998) |
| syndrome, trisomy 18 | There are three instead of the normal two chromosomes 18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome 18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the iq too low to edven test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is also called edwards syndrome in honor of the british physician and geneticist john edwards who discovered the extra chromosome in 1960. (12 Dec 1998) |
| syndrome, trisomy 21 | A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). The syndrome causes mental retardation, a characteristic face, and multiple malformations. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia (part of the intestines not developed), and a minor but still significant risk of acute leukaemia. Trisome 21 syndr0ome is also commonly called down syndrome after the 19th century english doctor langdon down who was curiously enough not the first person to describe the condition, added little to knowledge and, in great error, attributed the condition to a reversion to the mongoloid race. The disorder was also once called mongolism, a term now considered slang. (12 Dec 1998) |
| trisomy | <genetics, molecular biology> Term which indicates the presence of an additional whole chromosome. Each cell usually has 46 but in trisomy this is increased to 47. (13 Nov 1997) |
| trisomy 13 syndrome | <syndrome> A condition with three rather than the normal two chromosomes 13. Children born with this syndrome have multiple malformations and mental retardation due to the extra chromosome 13. The congenital malformations (birth defects) commonly include scalp defects, haemangiomas (blood vessel malformations) of the face and nape of the neck, cleft lip and palate, malformations of the heart and abdominal organs, and flexed fingers with extra digits. The mental retardation is profound. The iq is untestably low. The majority of trisomy 13 babies die soon after birth or in infancy. The condition is also called patau syndrome after the late geneticist klaus patau (at the university of wisconsin) who discovered the extra chromosome in 1960. (17 Dec 1998) |
| trisomy 18 syndrome | <syndrome> There are three instead of the normal two chromosomes 18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome 18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the iq too low to even test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is also called edwards syndrome in honor of the british physician and geneticist john edwards who discovered the extra chromosome in 1960. (12 Dec 1998) |
| trisomy 20 syndrome | <syndrome> Profound mental retardation with coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary dysplasia of the skin, dorsal kyphoscoliosis, and other skeletal defects. (05 Mar 2000) |
| trisomy 21 | <genetics, molecular biology> A congenital condition which is characterised by moderate to severe mental retardation, slanting eyes, a broad short skull, broad hands and short fingers. Other congenital abnormalities include heart defects, oesophageal atresia and an increased incidence of acute lymphocytic leukaemia. All of these findings are secondary to trisomy (an extra chromosome) of the 21st chromosome. Trisomy 21 can be detected in the first few months of pregnancy by amniocentesis. Risk factors include prior Down's child and mothers who become pregnant after age 40. Synonym: Down's syndrome. (27 Sep 1997) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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