| ¿µ¹® | sex chromosome | ÇÑ±Û | ¼º¿°»öü |
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| ¼³¸í | ¾Ï¼öÀÇ ¼ºÀ» °áÁ¤ÇÏ´Â µ¥ Áß¿äÇÑ ±¸½ÇÀ» ÇÏ´Â ¿°»öü. À̰Ϳ¡ ´ëÇÏ¿© º¸ÅëÀÇ ¿°»öü¸¦ º¸Åë¿°»öü¶ó°í ÇÑ´Ù. ¾Ï¼öÀÇ ±¸º°ÀÌ ÀÖ´Â »ý¹°¿¡¼´Â ¾Ï¼ö¿¡ µû¶ó ´Ù¸¥ Çü°ú ¼ö¸¦ ³ªÅ¸³»´Â ¿°»öüÀ̸ç, º¸Åë¿°»öü¿¡ ºñÇØ ¿°»ö¼ºÀ̳ª Çൿ¿¡¼ Â÷À̰¡ ÀÖ´Ù. ƯÈ÷ µ¿¹°ÀÇ ¼º¿°»öü´Â ±×·± °æÇâÀÌ °ÇÏ´Ù. ÈÞÁö±â ¹× Çٺп Àü±â¿¡ ¶Ñ·ÇÇÑ ÀÌ»óÀÀÃàÀ» ³ªÅ¸³»¸ç °¨¼öºÐ¿ ¶§´Â ´Ù¸¥ ¿°»öüº¸´Ù ¸ÕÀú ¾Õ¼°Å³ª ²ø·Á°¡´Â ÇൿÀ» º¸¿©ÁØ´Ù. |
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| ¿µ¹® | chromosome | ÇÑ±Û | ¿°»öü |
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| ¼³¸í | À¯ÀüÁ¤º¸¸¦ ´ã°í ÀÖ´Â DNA°¡ ¸ð¿©¼ ÀÌ·ç´Â ±¸Á¶¹°·Î ÇÙ¼Ó¿¡ À§Ä¡ÇÑ´Ù. ¼¼Æ÷°¡ ºÐ¿ÇÒ ¶§ À̰ÍÀ» ´õ¿í ¶Ñ·ÇÀÌ °üÂûÇÒ ¼ö°¡ ÀÖ´Ù. À̰ÍÀº »ç¶÷ó·³ °íµî»ý¹°Ã¼¿¡¼ ³Ê¹«³ª ¸¹Àº Á¤º¸¸¦ ´ã°í ÀÖ¾î, ¾öû³ ±æÀÌ(»ç¶÷¿¡ ÀÖ¾î¼ Àü DNA¸¦ ±æÀÌ·Î µûÁö¸é ¾à 2m°¡ µÈ´Ù)°¡ µÈ DNA¸¦ ÀÛÀº ÇÙÀ̶õ °ø°£¼Ó¿¡ º¸°üÇϱâ À§Çؼ ¸¸µé¾îÁø ±¸Á¶ÀÌ´Ù. ÀÌ ¿°»öüÀÇ ¼ö´Â »ý¹°ÀÇ Á¾¿¡ µû¶ó ´Ù¸£¸ç »ç¶÷ÀÇ °æ¿ì´Â 46°³ÀÌ´Ù. |
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| ¿µ¹® | chromosome abnormality | ÇÑ±Û | ¿°»öüÀÌ»ó |
|---|---|---|---|
| ¼³¸í | ¿°»öüÀÇ ¼ö³ª ±¸Á¶ÀÇ ÀÌ»ó. ÀÌ»óÀÌ »ý±ä ¼¼Æ÷³ª °³Ã¼´Â À¯ÀüÀûÀÎ ÀÌ»óÀ» ÀÏÀ¸ÄÑ »ç¶÷ÀÇ °æ¿ì, ´Ù¿î ÁõÈıº-ÅÍ³Ê ÁõÈıº µûÀ§ÀÇ ¿©·¯ °¡Áö ÇüÅ·Π³ªÅ¸³´Ù. |
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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 20 | The phenotype of trisomy 20p, which results from a parental translocation, includes mild to moderate developmental delay, round face with telecanthus, flat nasal bridge and short palpebral fissures but major pre- and postnatal growth development malformations are rare. The phenotype of interstitial 20p deletion is consistent with Alagille syndrome, an autosomal dominant disease with reduced penetrance and variable expressivity, and is defined by bile duct paucity in association with cardiac, skeletal, ocular and facial abnormalities. 20q13 trisomy shows brachycephaly, hypertelorism, ear anomalies, cleft palate, micrognathia, chin dimple, anteverted nares, CNS malformations, heart defects, psychomotor retardation and reduced life expectancy. Ring chromosome 20 presents with absence of major congenital malformations and paucity of dysmorphic features. Patients can show behavioural problems, seizures, mild dysmorphic features and variable degrees of mental retardation. Sipple syndrome, or multiple endocrine neoplasia type 2, is assigned to chromosome 20p. (05 Mar 2000) |
|---|---|
| chromosome 21 | Down syndrome is the most common chromosome disorder seen in live births and is a leading cause of mental retardation. The frequency of the syndrome is estimated at 1 per 700 births and the risk increases exponentially with maternal age. Some of the manifestations are mental retardation, flat facies, oblique palpebral fissures, epicanthic folds, short broad hands, flattened occiput, cardiac abnormalities, hypotonia, Brushfield spots of the iris, abnormal dermatoglyphics, seizures, increased susceptibility to respiratory infections, increased incidence of leukaemia and premature ageing with Alzheimer-like brain degeneration. 92% to 95% of children born with Down syndrome have a free trisomy as a result of maternal nondisjunction (95%) or paternal nondisjunction (5%). Translocations account for the rest of the trisomies with t(14q21q) or t(15q2q) representing 54.2% of the cases, and t(21q21q) or t(21q22q)5 accounting for 40.9% of the cases. There are a few cases involving other chromosomes. In 55% of the cases, translocations involving the D group chromosomes arise de novo and in 45% of cases a parent carries the translocation. When a G group chromosome is involved t(21q21q) occurs 83.3% of the time. In the vast majority of cases t(21qGq) occurs de novo. Partial trisomy or tetrasomy 21 due to duplication of the distal segment 21q22 results in the classical Down phenotype. Partial trisomy of the proximal segment of 21q21 shows a fairly normal phenotype with moderate mental retardation. Monosomy-21 is not compatible with life. Deletions of chromosome 21 are associated with psychomotor and growth retardation, congenital heart disease, holoprosencephaly, microphthalmia, skeletal malformation, genital hypoplasia and other dysmorphisms. Infants with ring chromosome 21 syndrome, a countertype of trisomy-21, show hypotonia, growth retardation, microcephaly and protruding occiput. Other malformations include ocular, cardiac, digestive, urogenital and skeletal malformation. Mental retardation is severe. (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) |
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