C6)'LJ KN&@) 'TQZ\Q ^`2006.10.17a"#FCH C6)'*11`Eb$9a&@)'*1(Eb;?

`ab.BD`%<-<a=2A/`%<-<a,!`38> 5W^X_aG2 `:8>IMO5W^X_a47+`[YPS]UQR^Va0`a¾ ¾|0ÿò÷øû³
ìĀ³U2ßá

8iXàS­Þ°CßéëÿÍåÎåÞ³U2Ç#ßQÍíéÃÜÏÚÂ

àU2ÜáÞì¹ÖØÕzqTÇÁìÕæÿÓà'WÂßÙÂÚÿZ´ûñðöùð

úà<Ü²;ÇtæêíìĀ
îÇ/Ûáÿbh½³
ðöùðúÀü10 ::à*ãÆÊÛ³#:¶¯ 10 :ßéì¿³

ñðöùðúýÇ 2003 FßVÍíÿ¢à3ºÛ³:lkß¶Ðìñ:lkăă ¦ āĄ ïÞÃ¹

à=a1xÇ<æêíÕĀ`ÿ2005 F 3 dÿU2¨uàºaßØÚ%~Ç<ÏÕ¿#û¨¶mßÅÊìU2à±Þ'WÂàÕæàñðöùðúÀßÿ¿³ßvÐì3(à'WÂÀà»Ç¡ÊêíÿÓà»ß 10 :Æêÿ|0ÿîÇ/àÐäÚà#a¡ßÅÊì³U2ï¢ñðöùðúÇpJßKÍíÕĀ:lkà=aß¹ÏÚáÿ10 :ñðöùðúà

²;ÇtæêíÚÂìĀüþDg&©]¿/à¶¯Z´À&yý`ÿ³:lkà=aa¡ßÅÊìH}ßÙÂÚáÿ10 :ïYLÐìa¡áEß_ÏÂ³:

Ûáÿ³#àCàÕæÿ³éãñðöùðúVàPTï¥§Ïÿ2005 F 9 dß³àßĂÙàA7+

ü³

:lk

#:U2ïOÚ, ¢^Hà)ï.êÞÊíâÞêÞÂĀÀÜ

ÍíÚÂìçààÿlka¡ßtæìÞ=a1xèH}à
ÞÂĀÓËÛÿbh½³

ñðöùðúß¿³

8lkA7+

ÿ³«óôõøÇîÇ/ßá|9Ï:lkï=aÐì¹àox"Å:lkox"x7+~":lkA7+

ïªÍÒÿÓÿjlkA7+

ýï¡ÊÕĀjlkáÿîÇ/Ûá 1974 FÆêGlkÜÏÚI¸±ÜÞØÚÂì³
ÞÇêÿ³:lkàzqTßÙÂÚà¥§ÇwÆØÕËÜÿ=alk[ÇÞÂËÜÿiXïeÐìG³:lkÛÁëàGlkßsäÚB

:à@µ>ÇBÞÉlka¡[Ç·êíÚÂìËÜÞÝà-ßéëÿH}á=aa¡ßåÆÍíÚÂìàÇ|{ÛÁìĀhox"x7+

Ûáÿ³:lkàÞÆÛçÐÛßI¸±ÜÞØÚÂìjlkàox"àÕæàñðöùðúVÇS!ÛÁ
ìÜÄÿàlkßÏÚhñðöùðúïVÏÕĀGà3ÛÞîíìjlkßáÿ6EÛ¥æêíì~ràjEàlïÜÐì3(Üÿ®,ß¥æêíìN6Þ4ÜÏÚàjEàlïÜÐì3(ÇÁëÿÂÑíçGlkÜÏÚÏÚÂìĀhñðöùðúáÿ³#ÛWîíì³:lkÜÏÚàjlkÿÐÞî×~ràjlkïR¼ßÿox"ÐäÈ»ànßÙÂÚ<ÏÕçàÛÁìÇÿ4àlïÜÏÕjlkßÅÂÚçPÜÍíì¡ÿ£]àWÂ`ÿlk`ußá¬Ðìçàç5ÉÿåÕ~ràjà4"ÇÙÆì3(çÁìËÜÆêÿàjlk=aà¹ßçhñðöùðúÇ&yÍíìËÜïfMÐì. hñðöùðúáÿ?ïÆÉ<ÏÚÂìçàÛáÞÉÿGlkÜÏÚàjlkñðöùðúÜÏ
Úá$ÛÁëÿNcSß~rÅéã®,àjlkßÙÂÚÿÓíÔíàlkàè£]ÌÜàiuà¤ï<Ðìñðöùðúï\ÐìPÇÁìĀ2

#bfkÓÇ
ÙÞÿÇ9ĕÇ9tqíâëñp¦ÛÆ:äõÜtqñtqėęp¦ĕp¦tqw%sTA70òękÈðtqĘñF-Ăíâëę*tq>ee´XªwíĄăčĒăĔĂTâçĚ¤Etqíâëp¦ïÇ

9tqw%70

tqĂ>eäÿäõëñtqÉÍėęp¦tqÉÍĘÛę«t¡ðÅ!

&Ă^äÿçùðęßñĄăčĒăĔðãçêÝþĂ©Öętq)²Úý4.ð¥ÿwVÐugğğ ± º ĝ Ġ Ă<âëtqð¤÷ętqñðOãçyïp¦ïFĂ©×ßíðüþāÛ2ñ&íâëñp¦öçęÇ

&9ñPÁïÃzðÖęp¦mĂ>eâę<jtqñF-ĂùáäßíĂiøĚtqñXªíFÛèJĀÿßíÛïÖü×ðęßñĄăčĒăĔòÅ=®âĂ©×úñíäÿĚĜĚ ÙüôYH¡p¦tqÉÍòę¢Ç9ÎÂñ¾rĜĘĂhâëÖÿ¡ĂtqYH¡íâëÊäõÜìÕÿĚp¦tqÉÍñtq½¡ėę½Í»Ăhâęp¦ôFp¦ñ½¡ĘòęÇ&9ñ3»ęÙüô¤E¢ÇtqðÙÞÿXªoðÎäÿäõëðĂ¼×úñíâę¤E¢ÇtqÉÍñ½¡òÇïtqXªñ÷ïýåęDÝÇâętqÉÍñ"aÙü

9[@6ĝĘñ¾rĂhâëÖÿßíÛiöâÖĚ

9tqñ{QðÌ÷ętqYH¡Ûęp¦&9ĕ¢Ç

9ñ?

9Ùüô/

tq>eðN­ðÎäÿ3kï»ÛKìÜÿü×ęe´ñ>ð$ùïÞĀóïýïÖĚ
p¦tqìòęBïÝíúĝ,ė×èĜ,òÎÂ¾rĂhäÿ¡ìÕÿßíÛiöâÖĘñYH¡ðüþ>eÙüô·àĀÿõÜìÕÿĚöçęp¦tqñn4.ðÕçþę&hï¤ES4û]µc©ðôéÝćĐĔČĂ©ï×N­ÛÕÿ5+òę'ï¤E¢Ç

9ñ»Ăhäÿ¤EÇ?Í&ĞĘÛęÎâëÖÿßíÛiöâÖĚĝĚ ´
p¦tqñ>eðÕçþę;QíFĂ¶äÿçùętqÉÍðòÅ!ï´Ùüôtqx1ėĆēĖĔďĔĊę§GęGęGęăĔąđďĖĉęÄMxęR}vęÒLËę±m¬öçò_I¬ěÉÍñ½´ęċĖĉďĖĈćĔĎđĖĉ Ęę¸¨ĂØęp¦¡òęæĀýñx£Ă<jðtĕZ

×ÚĂCð°äÿĚp¦tqĂâętqðN­ïlĂ~çâëÖÿÚîtqÉÍòęñ¹Ă¯<äÿwVÐugĂTâïÞĀóïýïÖĚĞĚ tp¦)öìÔtqÉÍòęp¦ñtqÑĂ)ÞÿðÕçþętqñðOãëÅ!ïÓñtÛÅ!ð\(àĀęÅ!ïd|ì(þWāĀęN­ÏÛ³¿àĀçÑgííúðę8ĕÀäÿ"ĂäÿĚöçęp¦tqñ3kÏė4.öìñU­f`ę#µcñp¦

3tqðéÖëò

;Ýlħ{y¡Uû»käąþėģĖniħÅ${yæY³úùóñÖûKZl ĥċħ{yċÚïĈ'NĤ{ħ{h'ĥú#ú^=hïĈY³æàĈĨh'æ{yÚpú¸ÄïĈY³Ø÷íõüħ°{§3Āñü(3& IDħPqnĀñ

üû¿ēģęħ]ħ{yÉZħ{yÚIħªQħY³úZîõH^=ħ{ûÜħf,nħdT'Nû3÷È£Ĥ×¼/ħ¤\È£ċ4ĂĥæàĈĨ{f,íñm¹@û{yGmm¹ú{yċÚïĈ>1úüħ^=Àûñă°{§ ID ÷íõÈ¢.©(3&¸/ċáĈê÷ċgBïĈĨĤ .,  &#)ąć ĦMt+¦ÃkÞ9ûÓÈeÍß+ĥx¬{yGmúÖíõüħÚpúħ'NåĆ°{§úKíõ{yûĢlĢSĢÕĢ¢wûÑlúôáõ)ù¾oæùìĉħ°{§û«_[úąĈ2_ĤčġĚďģĜęĢēġĕġĘĥæ
VĆĉõáĈê÷ħäąþ{y#ûËĐĎġĕĞġĒæÉú®ĊĉõáĈê÷ċ½ïĈñăûħdT

'Nû¥3ċ¹éħðĉċ½íõ{% '$('+*-/*02.,ċ-ééĈĨĤ  1&!") '&#)ąć ĦMt+¦ÃkÞ9ûÓÈeÍß

+ĥĩĨ »kûx¬{yÌÐüħ-·íñ{

ċ{yûúûāíħD{yûñăúaìĉñĔĝčę~uû»küħ{û`aUûÉùsÒDíùéĉýùĆùáĨõû{

ħ{yûħ;Ý

¨ħ

¨8F

ħ{

úħÉùlöħ=5pü@úíñćħ§úíõü

ùĆùáĨ
x¬

{yÌÐûÂ§üħ{ûÜäąþ{yúħ»kûDsÒúôáõ~bÙ|pú¸ÄíħY³úZîõ¯ïĈĨĀñħÉúSæ®ĊĉõáĈåøâåúôáõFsú´ĢºïĈĨ

ĪĨ v
x¬

{yüħx¬±ċKÁ÷íõħÛWÏúx¬Ĉz:vċ<u÷ïĈĨõûx¬iäąþx¬}Çû?&ċµJï{yÌÐü G xċáõ{yċGmíħY³úZîõ0xċÅ$íõħ.©ùÕćù¢wċVĈê÷æöçùéĉýùĆùáĨ FISH ĄħěčđĠČğč
ûCËEù¶vlüħAèû>1ÆOûx¬{yĤïùĊòz:vĥû²%b÷¦ãĈÿçöàćħÉú!ìĉùéĉýùĆùáĨÂ

§ü{yäąþ»kûÜúZîñvûÊcħxë÷ûÉZĢ{ÕĢSlû{y<ħäąþù{-lħ;ÝlĢ¶vĢv<Ģ»­ċ4ăñSlúôáõħ~bÙ|pú¸Äíħ{ydT§ú6ĢXRïĈĨðûâãöħ0L
ûIúäéĈOûrĢdT§3ċ¸ÎïĈ"ċjãħ0{íõáĈê÷ċ½ïĈĨ¶v©üħ.©ùÕć*7ċFíħ4æÉúìĉ{yċ¡Ôû¶vúáåïñăħðû¸Ë4R2²Èè

V

ZW¾ç]n»VZWxUË>È´Â¼çZW½ljç@çK½oçi®º¼ç»L`¨·»s<¹?»t|J¼·¤¸TË¤ç»R¼.'²Èè,¡t|½0^©»/%¾ç»R¼T}½$}AËZ

I¼¦¸ZËF°ç

»R¼ZW}½Pu.'º³½!(Ëm²Èè1) X*T
6²Àªt|JÄV<q¼·¤¸¾çZ

K§Å¿ZWlj¼4ÂÈÀª¹£È©çj¼¾ç½-b¼_¶´TË¥è
V

ZW¾çZ

ËJ¼¬¸,¡åd°ç8»«ºÃ 20 t|¼·¤¸V°ç³½¥µP 5 t|ËTçP 2 t|½X*Ë

D°çTxU½²À¸ËiJËÐÎäØåÜÌÍâ¼2²Èè

X*¾ç8»«ºÃ 2 &½»w¢ËH·TG={¼Å¶¸°ç³½¥µê&¾{¹£È­º©QÁ°¤è2)  in situ ÚÍÝáÖÍÔæÑàä(FISH)TV

ZW¹5M²È FISH T¾ç1ª«VZW¾çZW½#¼£´Çç£Æ¨±Âl®º½@çcAçZgq½B.ËZW

Yq¼°¸ZVRXS FISH ºRX FISH ¼¯ÉÈ.

I¼²Èè

ZW½{¾çKéÞãæÝ½onL`çC<åch<½Z4L`qË\bEËa´°¸¤È­ºËk°ç4Rj¼éZlj®º¼çTL`çÞãæÝ½9)½[O¼²ÈººÃ¼ç:¼~;ZWº°¸½s<²Èès<rd¼²È¾ç4Rç¼r²Èè{¾çRX FISH ¼·¤¸¾çj¼3»X*T½ÊÇ¼¾»Ç>»¤­ºËZWY
Oq¼N²ÈèX*T¼p¶¸RX FISH ©5M¯ÉÈ/%¼¾ç>´xU¾j»B.Ë
Ã´Æ²Ã½¹£È´ÂçX*T¼ÅÈZË¥­º©QÁ°¤èV

ZW¾çRX FISH Ëi½ZW¼e²È¼ç7º²Èvyåt|½oç§Å¿e²ÈÞãæÝ®º¼.'$}»"z+¼²È×æÕßæÓËnp²Èè

¸½ FISH T¹¾ç8»«ºÃ 2 &½»w¢ËH·TG={©çZWlj®º¼£Æ¨±Â4°´?»t|J¼·¤¸½TË5M°çÚÍÝáÖÍÔæÑàäÛÕæä®º¼ç8»«ºÃ 2 ·½fËÏáÒÙâfººÃ¼ FISH T½º°¸i5

ÜÌÍâ¼2²ÈèćĆ -'
hli¯´ÙąliØgêąÔlØ½×GËÒ¿åÄËá4ÊÏlØ!»Äål

igÅ-'ÉèçÞÓØdµ×­×-'ÌçĆf×{ÀÏ£TąfõĂóą-'`ÃäÛÎØ¶©TÙą¿åÄËá4ÊÏ­Ödµ2ÌçĆ2dµÃäÛ-'DØ)À$éÍØ:GWsÙl

R

×Êą­×:GÌçĆ¨Ùą¾Ø,v×ÑÀÒnvNºm`×ªÊą­×yÅéèÒÀçÄÕÁÄ×ÑÀÒā¢ÌçĆfêÊ-'`ÔÊÒgÅ-'ÉèçÞÓØdµÔÊÒÙąek×äçzpØhliÓÙ 28 [ă21 [ÅcÞÊÀĄązUêÔÊÏhliÓÙ 14 [ą@Öxr×äæ_×dµÓØg-'ÅqÉèç.$×Ùą"Ö·æ:GÌçĆÉå×ąwoÖW
sê6XÌçFÖÕÅ¿æ-'ÞÓ×³dêÌçäÁÖ.$×Ùą­5ÎØ\êy|ÔÔâ×¼ÊÏ>×ÂçĆhli¯´ÙąFISH fØgê-'Ìç¸×ąlă®1#ÞÏÙAąWsą{ÊÏúÿĂùØ¬Ô ID

#Ąą¢ÊÏSą¥Ö÷ëùýôëòĂðüĀØgăµdj FISH ×ÑÀÒÙïĀöÿĂþØgâ&àĄê]Êą÷ëùýôëòĂðüĀøóĂĀÈÔ×=ÖÆÔâ 2 ÑØ}êtÌçĆliØ·~êKÊÒgê±Êą­ÖïûĀöê-'`×ªÌçĆfgØ¢Å¹ÊÀ.$ÙąÖy|ê-'ÊąÎØgÅØWsăÂÚą@J-ą1®3f Ą×äÐÒl¡"Ö.$×ÙąÎèå×äæ«l¡ÌçÇÔØb{HêOC>×ÂçĆFISH sê&áÏhliØgÙĆaVØ An International System for Human Cytogenetic

Nomenclature ăISCNĄØWB×EÀj+ªÊÒLÌçĆSØWsê{ÀÒfêÐÏ.$×ÙąÌÝÒØJ-ê$ÊÒ9Êąa-'ÔÌçĆ
ÞÏą!^×ą%lã%7(ØliÅZ×6Xußą¿çÀÙ6XÓ¿çÇÔÅ]
ÊÏ.$×ÙąÎèåØgâ$ÊÒ9Êąa-'êÖÁĆfgØ±×Ùą@J-ÔØ¶ą¤CÌç?gØ8Å&ÞèąIÞÏÙ7YÜØÖ®3liØ2*Ô8ąÃäÛÎè×äæéÄçÇÔ×ÑÀÒØ§]ą¤CÌçMØ²HąliDØ®íìĀñýĀî×:Ìç°K×ÑÀÒØ9Å&ÞèçĆÒØ-'ïûĀöÙ®;´7ÓÙÖÀlhR×â]

3Ø×yÉèçäÁ×ªÌçĆli-'`Ùą@®3P</ÅaÌç9ÖÕêïûĀöÌç.$×Ùą@®;´6Ø¦ÌçÇÔÅQ0ÉèçĆÉå×@J-×¶¦ÅQ0ÉèçĆc

gd¦§Íé

b3,[ËéhÌK3Ý½égR!ÌÒË?N´Ç3,½Ê»ÛÎÊØÊ´êìçgK3õl*ÑÂÍ"*OG!@*égIDérC]WÑÂÍÌàåâéJé®Vä¦M*éÌ~¯égQ$Wég%­/%Wé®¼ÛÂgd¬yíçgd3,WîçDK3ägd¤IïçaËs´ÂæçÌ~¯È2°`æoÌnÌ^pÈ~¯²2°Z¨Ý+Óçé
8V½ÂcmäFISH mðçaSé'Ìc

SäaSäe1aSäcEñçe1Ìatë{± èìcmäìvAe1³ÂÙíÌe1Ìatë{éHËI¾ÆÖ¦e1Ý¢¿Úê±òça½ÂÌ\TÌ ISCN Ë×Úe1¡·×Ï¥

7xóçãáÞßwÌgÌÂÔË8V½Â¢a:Ì¡ôçSÌUmÝs´Âa¸ÜÛÂ4(Íé¿ÐÆÌK3Ý(½Â;10çË)g³Ú´Í)9ÌaÝ8V½Â4(ËÍé.ÌgdÈÌz©±11ç¨_e FISH aÊÉÇgd
<qÌa12çbÝk¿ÚyxÇB½Æ<qÌaÝÃÂ4(ËÍéÁÌb±ée1aOGÌl*·×ÏHËI¾ÆP>é3,[Ê·éD¥7©£f³Ú´ÍD¥LË©½Â!@Ìl*ê=§!ÌfÝ^½Æ´Ú4(ËÍÁÌXÝY¿Úê
13çcgd¦§K3õiF*éaÝÃÂcgd¦§ÌM/0é«u&Ý+Ó£é-´(ÜÀæOG*Ý+Óçé-´(ÜÀàåâu&êg6_¨ÝY¿Úê³È¸¹¥!7Ì|Lb¸ÄºÄºËDgdËIs¼ÛÆ¹Æ´Ú¸éDx^sJä5GJ¸#}½Æ´Ê´jªÇgd¸8V¼ÛÚ4(¸³ÚêÁÛØËÍé|È½ÆÌÝR¿Ú¸égR!Ëi}ÊK3ÝR¿Ú±7Å»¸HÇ³ÙégdÝµÕÌÈ¶Úê

\EP-]yAn International System for Human Cytogenetic Nomenclature (ISCN)
Y }1.8f~ISCN2005. Shafer LG, Tommerup N (eds); S. Karger, Basel 2005

\eUQ,T]
yZS " ?5 4 dUa hlir vi x{10 "  lirv ix |[{2003 &|{S "UQ 10 "02S kjxpwxn"~02S !L>"~02;C C"~02$S "~02XS "~02<%"~02N<%"~02uoomwzsxn"~02H'54"{VW|~#/(G=AD|Y<http://jshg.jp/>yZ >yO U  6F d_ ` h  ) eR  c +^ ebg elir vi x[{:@|{2004 &|<http://www.mhlw.go.jp/topics/bukyoku/seisaku/kojin/dl/170805-11a.pdf>
yZtqS !5 4 K dUa h 9, T [{B702J:54*|{2004 &|<http://www.jrcla.or.jp/info/info/dna.pdf>\Me3I

54dUahlirvix{Guidelines for Clinical Cytogenetics|]]y AMERICAN COLLEGE OF MEDICAL GENETICS
Standards and Guidelines for Clinical Genetics Laboratories 2006 Edition<http://www.acmg.net/Pages/ACMG_Activities/stds-2002/stdsmenu-n.htm>
y Association of Clinical Cytogeneticists
ACC PROFESSIONAL STANDARDS COMMITTEE
Information<http://cytogenetics.org.uk/info/INFO.HTM>
y College of American Pathologists
Laboratory Accreditation Program Inspection Checklists<http://www.cap.org/apps/docs/laboratory_accreditation/checklists/cytogenetics_october2005.pdf>
yThe Association of Genetic Technologists, Inc. (AGT)
STATEMENTS OF COMPETENCE FOR CYTOGENETIC TECHNOLOGISTS<http://www.agt-info.org/Documents/Cyto%20Statements%20of%20Competence%202001.pdf>
y Australian Government Department of Health and Aging
Guidelines for Cytogenetics Laboratories, developed by a subcommittee of NPAAC and is based on
guidelines developed by the Human Genetics Society of Australasia (HGSA)<http://www.health.gov.au/internet/wcms/Publishing.nsf/Content/0922379CDC6C3326CA256F18004696
3E/$File/cytogen.pdf>

8

M:: >X*CN
w: >s xH A/$#v
fcijclW\pA
/$#JbpI.+

E@sr[KA/$#ZEU`fcijclLX

TYOA/&pIA

nA:!1Z]_^PZSa`.(352[Aob^PZU`$#JX4U`qw: >t xH ',F%v"8$#BDQ-7ZmU`$#)[0RX[<3b;?TVqw* C xso 635A=n

GAH =op"8!9=

to 635An

GAH =ouo 6ADGAm#H =onAedlhklgH =o9n"8A$