| 영문 | sex chromosome | 한글 | 성염색체 |
|---|---|---|---|
| 설명 | 암수의 성을 결정하는 데 중요한 구실을 하는 염색체. 이것에 대하여 보통의 염색체를 보통염색체라고 한다. 암수의 구별이 있는 생물에서는 암수에 따라 다른 형과 수를 나타내는 염색체이며, 보통염색체에 비해 염색성이나 행동에서 차이가 있다. 특히 동물의 성염색체는 그런 경향이 강하다. 휴지기 및 핵분열 전기에 뚜렷한 이상응축을 나타내며 감수분열 때는 다른 염색체보다 먼저 앞서거나 끌려가는 행동을 보여준다. |
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| 영문 | chromosome | 한글 | 염색체 |
|---|---|---|---|
| 설명 | 유전정보를 담고 있는 DNA가 모여서 이루는 구조물로 핵속에 위치한다. 세포가 분열할 때 이것을 더욱 뚜렷이 관찰할 수가 있다. 이것은 사람처럼 고등생물체에서 너무나 많은 정보를 담고 있어, 엄청난 길이(사람에 있어서 전 DNA를 길이로 따지면 약 2m가 된다)가 된 DNA를 작은 핵이란 공간속에 보관하기 위해서 만들어진 구조이다. 이 염색체의 수는 생물의 종에 따라 다르며 사람의 경우는 46개이다. |
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| 영문 | chromosome abnormality | 한글 | 염색체이상 |
|---|---|---|---|
| 설명 | 염색체의 수나 구조의 이상. 이상이 생긴 세포나 개체는 유전적인 이상을 일으켜 사람의 경우, 다운 증후군-터너 증후군 따위의 여러 가지 형태로 나타난다. |
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| Xp | paternal chromosome X; short arm of chromosome X |
|---|---|
| Xi | inactive X Chromosome |
| CCA | cephalin cholesterol antigen; chick cell agglutination; chimpanzee coryza agent; choriocarcinoma; ci... |
| CH | case history; Chediak-Higashi [syndrome]; chiasma; Chinese hamster; chloral hydrate; cholesterol; Ch... |
| Ch | chest; Chido [antibody]; chief; child; choline; Christchurch [syndrome]; chromosome |
| BAC | Bacterial Artificial Chromosome |
|---|---|
| CHr | Chromosome |
| CA | Chromosome aberration |
| CMGT | Chromosome mediated gene transfer |
| CCR | Complex chromosome rearrangements |
| chromosome 18 | Edwards syndrome (trisomy 18), the second most common autosomal trisomy with an occurrence rate of 1 in 8,000 live births, is associated with a distinct pattern of dysmorphogenesis and congenital abnormalities which results in early death. Marked growth deficiency is a major trait of the phenotype. Other striking clinical features of this syndrome include congenital heart abnormalities, mental and developmental delays, prominent occiput, faunlike ears, micrognathia, short sternum, narrow pelvis, overlapping fingers and rocker-bottom feet. The 18q12.2 subband is identified as the critical region in the trisomy 18 phenotype. Trisomy 18 mosaicism can present with minimal non-specific signs and no typical stigmata of the full trisomy. Although Edwards syndrome is typically associated with duplication of the entire chromosome 18, several individuals with partial trisomies of chromosome 18 (18q2 trisomy, 18p & q1 trisomy) are reported. These patients display a range of severity from a relatively mild phenotype with no internal organ malformations to the classic characteristics of Edwards syndrome. Isochromosome 18p [i(18p)] is described 6 and is associated with a distinctive syndrome, tetrasomy 18p, which includes low birth weight, characteristic facies, neonatal hypotonia with subsequent limb spasticity, short stature, microcephaly, mental retardation and seizure disorders. Isochromosome 18q is a rare cytogenetic abnormality resulting in trisomy for the q arm and monosomy for the p arm of chromosome 18. Phenotypic characteristics are not yet fully delineated. Clinical and pathological examination reveals features characteristic of both trisomy 18 and monosomy 18p or features characteristic of trisomy 18 alone. Severe cephalic malformations such as holoprosencephaly, cebocephaly and cyclopia are reported in i(18q), but are rarely described in trisomy 18 and are only occasional findings in monosomy 18p. Isodicentric chromosome 18 was described and the clinical findings are associated with both the trisomy 18 and 18p- syndromes. The 18q- syndrome or 18q2 monosomy is a well-described partial aneusomy disorder resulting from the deletion of a portion of the long arm of chromosome 18. Typically, patients with this syndrome show growth deficiency, dysmorphic facial features, limb defects, genitourinary malformations, neurologic and ocular anomalies, and developmental delay with mental retardation. The dysmorphic features are mild and include midfacial hypoplasia, carp-shaped mouth and abnormally folded ears. Neurologic findings consist of hypotonia, poor coordination, choreoathetotic movements and ophthalmologic abnormalities. Proximal interstitial deletion of 18q involving band 18q12.3 is recognised with a distinctive phenotype including moderate to severe MR, high forehead, deep-set eyes, hypotelorism, flat nasal bridge, dysplastic ears, excess dermatoglyphic whorls and aggressive behaviour. In the majority of deletions of the short arm of chromosome 18 (18p monosomy or 18p- syndrome), dysmorphism is not very distinctive. Psychomotor retardation is more or less severe. The ring 18 phenotype shares features of the 18p- syndrome and those of the 18q- syndrome with predominance of the features of the 18q monosomy. Mosaicism is frequently observed with ring chromosomes. The gene for peptidase A is localised to 18q23. (05 Mar 2000) |
|---|
| accessory chromosome | A chromosome existing without its normal homologous chromosome; at the reduction division of gametogenesis an accessory chromosome is likely to be included in one daughter cell and not in the other, but may be lost completely by lagging behind on the equatorial plate. Synonym: monosome, odd chromosome, unpaired allosome, unpaired chromosome. (05 Mar 2000) |
|---|---|
| acentric chromosome | A fragment of a chromosome lacking a centromere and unable to attach to the mitotic spindle, therefore unable to take part in the division of a nucleus and randomly distributed in daughter cells. Synonym: acentric fragment. (05 Mar 2000) |
| acrocentric chromosome | A chromosome with the centromere placed very close to one end so that the short arm is very small, often with a satellite. (05 Mar 2000) |
| balanced chromosome | <genetics> A chromosome which is unable to pair with its homologue and participate in homologus recombination during meiosis because it contains several inversion mutations (that is, has segments which have become flip-flopped). (09 Oct 1997) |
| B chromosome | <genetics> Small acentric chromosome, part of the normal genome of some races and species of plants. (18 Nov 1997) |
| bivalent chromosome | A pair of chromosome's temporarily united. (05 Mar 2000) |
| male chromosome complement | The large majority of males have a 46, xy chromosome complement (46 chromosomes including an x and a y chromosome). A minority of males have other chromosome constitutions such as 47,xxy (47 chromosomes including two x chromosomes and a y chromosome) and 47,xyy (47 chromosomes including an x and two y chromosomes). (12 Dec 1998) |
| marker chromosome | An abnormal chromosome that is distinctive in appearance but not fully identified. For example, the fragile x chromosome was once called the marker x. (12 Dec 1998) |
| p arm of a chromosome | The short arm of a chromosome (from the french petit meaning small). All human chromosomes have 2 arms: the p and q arms. (12 Dec 1998) |
| giant chromosome | <cell biology> Giant chromosomes produced by the successive replication of homologous pairs of chromosomes, joined together (synapsed) without chromosome separation or nuclear division. They thus consist of many up to 1000) identical chromosomes (strictly chromatids) running parallel and in strict register. The chromosomes remain visible during interphase and are found in some ciliates, ovule cells in angiosperms and in larval Dipteran tissue. The best known polytene chromosomes are those of the salivary gland of the larvae of Drosophila melanogaster which appear as a series of dense bands interspersed by light interbands, in a pattern characteristic for each chromosome. The bands, of which there are about 5,000 in Drosophila melanogaster, contain most of the DNA (ca 95%) of the chromosomes and each band roughly represents one gene. The banding pattern of polytene chromosomes provides a visible map to compare with the linkage map determined by genetic studies. Some segments of polytene chromosome show chromosome puffs, areas of high transcription. (18 Nov 1997) |
| Giemsa chromosome banding stain | <technique> A unique chromosome staining technique, used in human cytogenetics to identify individual chromosomes, which produces characteristic bands. It utilises acetic acid fixation, air drying, denaturing chromosomes mildly with proteolytic enzymes, salts, heat, detergents, or urea, and finally Giemsa stain; chromosome bands appear similar to those fluorochromed by Q-banding stain. Synonym: Giemsa chromosome banding stain. (05 Mar 2000) |
| metacentric chromosome | A chromosome with a centrally placed centromere that divides the chromosome into two arms of approximately equal length. (05 Mar 2000) |
| ring chromosome | A structurally abnormal chromosome in which the end of each chromosome arm has been lost and the broken arms have been reunited in ring formation. A ring chromosome is denoted by the symbol r. (12 Dec 1998) |
| Christchurch chromosome | An abnormal small acrocentric chromosome (no. 21 or 22) with complete or almost complete deletion of the short arm; found in cultured leukocytes in some cases of chronic lymphocytic leukaemia, also in some normal relatives of patients. (05 Mar 2000) |
| chromosome | <cell biology> The self-replicating genetic structures of cells containing the cellular DNA that bears in its nucleotide sequence the linear array of genes. The DNA of eukaryotes is subdivided into chromosomes, that consist of a number of chromosomes whose DNA is associated with various proteins. The chromosomes become more tightly packed at mitosis and become aligned on the metaphase plate. Each chromosome has a characteristic length and banding pattern. In prokaryotes, chromosomal DNA is circular, and the entire genome is carried on one chromosome. See: C banding, G banding. (10 Nov 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|