| ¿µ¹® | sex chromosome | ÇÑ±Û | ¼º¿°»öü |
|---|---|---|---|
| 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 |
|---|---|---|---|
| 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. |
||
| ¿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. |
||
| LEOPARD | lentigines, EKG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia,... |
|---|---|
| SCARF | skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, facial abnormalities [s... |
| VACTERL | vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esoph... |
| Xp | paternal chromosome X; short arm of chromosome X |
| IRMA | 1) Intra-Retinal Microvascular Abnormalities 2) Immuno-Radio-Metric Assay... |
| RWMA | Regional Wall Motion Abnormalities |
|---|---|
| A | abnormalities |
| %WMA | wall motion abnormalities |
| BAC | Bacterial Artificial Chromosome |
| CHr | Chromosome |
| chromosome abnormalities | Defects in the structure or number of chromosomes resulting in structural aberrations or manifesting as disease. (12 Dec 1998) |
|---|
| abnormalities | Congenital malformations of organs or parts. (12 Dec 1998) |
|---|---|
| abnormalities, drug-induced | Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. (12 Dec 1998) |
| abnormalities, radiation-induced | Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radiation. (12 Dec 1998) |
| atrioventricular conduction abnormalities | <cardiology, physiology> Any condition which involves abnormal (blocked, delayed or aberrant) electrical conduction through the atrioventricular node (for example atrioventricular block). Some medications may precipitate atrioventricular conduction abnormalities. (02 Jan 1998) |
| A-V conduction abnormalities | <cardiology, physiology> Any condition which involves abnormal (blocked, delayed or aberrant) electrical conduction through the atrioventricular node (for example atrioventricular block). Some medications may precipitate atrioventricular conduction abnormalities. (02 Jan 1998) |
| cardiovascular abnormalities | Congenital structural abnormalities of the cardiovascular system. (12 Dec 1998) |
| maxillofacial abnormalities | Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones. (12 Dec 1998) |
| respiratory system abnormalities | Congenital structural abnormalities of the respiratory system. (12 Dec 1998) |
| mouth abnormalities | Congenital absence of or defects in structures of the mouth. (12 Dec 1998) |
| congenital kidney abnormalities | Kidney abnormalities that are present from birth (for example polycystic kidneys). (27 Sep 1997) |
| musculoskeletal abnormalities | Congenital structural abnormalities and deformities of the musculoskeletal system. (12 Dec 1998) |
| craniofacial abnormalities | Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. (12 Dec 1998) |
| skin abnormalities | Congenital structural abnormalities of the skin. (12 Dec 1998) |
| neonatal diseases and abnormalities | Diseases existing at birth and often before birth, regardless of causation. Of these congenital diseases, those characterised by structural deformities are termed abnormalities. (12 Dec 1998) |
| nervous system abnormalities | Congenital structural abnormalities of the nervous system. (12 Dec 1998) |
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