KªvgRg cwiez b. ivmx `i ÁvZe

12 Aidv bu wd«i qe mvbu www.orpha.net _ K A ^vfvwek ivm-e vwa, wpwkrmvi Rb cix v-wbix v I Ilya-cZª wel q Ges mviv BD iv c Ab vb wjsk m ú K Avcwb AviI we vwiz Rvb Z cvi eb KªvgRg cwiez b BD iv Rb U wd«i qe mvbu www.eurogentest.org _ K R bwuk U Ges BD iv c Ab vb wjsk m ú K Avcwb AviI we vwiz Rvb Z cvi eb A_ev Avcbvi _vbxq R bwuk wk wbk Abyev`K Abul Kalam Azad, MBBS; PhD (Human Genetics) I UvwiI K vývi BÝwUwUDU A vc vbw gwjkzjvi As KvjwR wcö Ým gvmv iu nmwcuvj 7g Zjv, iyg b ^i Ñ 7-125 610 BDwbfvwm wu G fby Ui Uv, I UvwiI, Gg5wR 2Gg9 K vbvwv Ontario Cancer Institute Applied Molecular Oncology Princess Margaret Hospital 7th Floor, Room no: 7-125 610 University Avenue Toronto, Ontario, M5G 2M9 Canada deªyqvwi 2009 February 2009 G KvR BD iv Rb U KZ K mgw_ Z hv BD ivwcqvb BDwbqb Ñ Gdwc6 mgw_ Z buiqvk Ae G wm jý Ñ hvmv hv Mi b ^i 512148 Bjvm ªkb: i ekv R KÈ www.rebeccajkent.com rebecca@rebeccajkent.com ivmx `i ÁvZe

2 KªvgRg cwiez b g b ivl eb 11 KªvgRg cwiez b Kx, Rb m~ Zª Zv Kxfv e GK R bi Kv Q Avm Z cv i, Ges KLb Zv wzki n q DV Z cv i, G me welq wb q wb Pi Aby Q`Mywj Z Av jvpbv Kiv n q Q Z_ Mywj Ggbfv e `qv n q Q hv Z K i mmywj K Avcwb Avcbvi R bwuk we klá cö`ë civg k i cvkvcvwk e envi Ki Z cv ib KªvgRg cwiez b m ú K fvjfv e Rvb Z n j wrb I KªvgRg Kx Zv Rvbv cö qvrb wrb I KªvgRg Kx? Avgv `i `n j j mj ev Kvl Øviv MwVZ cövq cöwzwu Kv li g a i q Q wr bi GKwU c~y mu Avgv `i nvrvi nvrvi wrb i q Q GB wrbmg~ ni g a _v K GK My Q wb ` k hv Avgv `i e o DV Z I Avgv `i kixi K Zvi KvR mwvkfv e Ki Z mvnvh K i Avgv `i A bk we klz K GB wrb wbqš ªb K i, hgb, Pv Li is, i ³i MÖyc I aiy, ev D PZv myzvi b vq GK ai Yi AeKvVv gvi g a wrb _v K hv K KªvgRg ejv nq mvaviyz Avgv `i kix ii cöwzwu Kv l 46Uv K i KªvgRg _v K DËivwa - Kvim~ Zª 23Uv wczvi KvQ _ K Avi 23Uv gvzvi KvQ _ K Avgiv GB KªvgRgMy jv c q _vwk, ZvB Avgv `i 23Uv KªvgR gi `ywu mu ev 23 Rvov KªvgRg _v K Avi h nzz KªvgRgMy jv wrb Øviv MwVZ m nzz Avgiv wr bii `ywu Kwc gvzv I wczvi KvQ _ K DËivwaKvim~ Zª c q hvb G Kvi YB KLbI KLbI Avgv `i A bk ˆewkó gvzv ev wczvi g Zv n q _v K KªvgRgmg~n ev Ab A _ wrbmg~n GK cökvi ivmvqwbk `ªe Øviv MwVZ hv K Avgiv wwgbg ewj bervzk DËivwaKvim~ Zª cybwe b vm c q _v K A_ev Mf mâv ii mg q GwU n q _v K cybwe b vm givgz Kiv hvq bv Ñ GwU mvivrxeb enb Ki Z nq cybwe b vm A b i KvQ _ K mskªwgz nq bv myzivs, D`vniY ^i~c, cybwe b vm evnk B Q Ki j i³ `vb Ki Z cv ib A bk KªvgRg evnk KLbI KLbI wb R K Acivax g b K ib GwU g b ivlv Riywi h, GwU Kv iv K ZKg bq, Ges KDB B Q K i GwU Ki Z cv ib bv AwaKvsk fvimvg c~y cybwe b vm evnk my _ mš v bi RbK-Rbbx Kª gvrg cwiez b m ú K AviI Z_ Avwg Kv_vq c Z cvwi? GwU msw ß GKwU MvBW gvzª Avcwb wb Pi wvkvbvmg~n _ K AviI Z_ c Z cv ib: BDwbK Ñ BD K-Gi ` iqvi Kª gvrg wwriqvwv i mv cvu MÖyc Uwj dvb: +44 (0) 1883 330766 B- gbj: info@rarechromo.org I qe: www.rarechromo.org

10 GKwU wkky Rb MÖnY Ki Z cv i hw`i Zvi gvzv-wczv KviyiB cybwe b KªvgRg bb GwU K Ò` bv fvó (j vwub) ev becybwe b vm e j Gi A_ GB bq h H gvzv-wczvi memywj mš vbb cybwe b KªvgRg wb q Rb wb e, eis m m vebv AwZ bmy cybwe b KªvgR gi cix v GK Rb cybwe b KªvgRg enb Ki Qb wk bv Zv Rvbvi Rb R bwuk cix v Av Q GKwU mvaviy i³ cix v Kiv nq, Ges H i ³i Kv l KªvgR gi web vm j ve iuwi Z cix v K i `Lv nq G K KwiqUvBc U e j wkky hlb M f ZLb wkkyi KªvgRgI cix v K i `Lv m e G K Rb c~e ivmwby q e j h wel q Avcwb KLbI KLbI Avcbvi R bwuk we kl Ái mv _ civgk Kivi K_v f e _v Kb (wmwfgm I A vgwbqwmb _wmm wjd jumg~ n G cix vmywj m ú K AviI Z_ cviqv hv e) cwiev ii Ab vb m`m `i Kx n Z cv i Qwe 1: wrb, KªvgRg I wwgbg 3 cwiev ii GKR bi Kv l hw` KªvgRg cybwe b vm cviqv hvq Z e Ab vb m`m `i Zv AewnZ Kiv h Z cv i, G Z ZvuivI B Q Ki j cix v K i `L Z cv ib GwU hvu `i BwZg a B mš vb Av Q Zvu `i Ges hvu `i fwel Z mš vb n Z cv i Zvu `i Rb we klfv e MyiyZ c~y hw` Zvuiv cybwe b KªvgRg enb bv K ib Z e Zvuiv Zv Zvu `i mš vb K w` Z cv ib bv wkš y hvuiv evnk Zvuiv Mf aviykvjxb wkkyi KªvgRg cix v K i wb Z cv ib wkqz wkqz gvbyl Av Qb hvuiv cwiev ii Ab vb m`m `i wbku welqwu jywk q ivlvi K_v fv eb GB f e h Zvuiv (cwiev ii Ab vb m`m MY) GwU wb q `ywðš v Ki eb Kv bv Kv bv cwiev i cwiev ii Ab vb m`m `i mv _ hvmv hvm Kiv Kómva we epbv K ib R bwuk we klámy G wel q h _ó cwigvb AwfÁ Ges Zvuiv Avcbv K G wel q mvnvh Ki Z cv ib bvix I cyiyl Df qi 1 _ K 22 b ^i ch š KªvgRgMywj `L Z cövq GKB ikg (Qwe 2 `Lyb) Ñ GMywj K A Uvmg ejv nq 23Zg Rvov bvix I cyiy li wfbœ Ñ GMywj K wj M wbav ik KªvgRg ev m KªvgRg ejv nq `yai Yi m KªvgR gi GKwU K G KªvgRg I Ab wu K IqvB KªvgRg ejv nq mvaviyz g q `i m KªvgR gi Rvov Z `ywu G KªvgRg (XX) _v K GKwU g q Zvi gvzvi KvQ _ K GKwU G KªvgRg I wczvi KvQ _ K GKwU G KªvgRg c q _v K mvaviyz cyiy li m KªvgR gi Rvov Z GKwU G KªvgRg I GKwU IqvB KªvgRg (XY) _v K GKwU cyiyl Zvi gvzvi KvQ _ K GKwU G KªvgRg I wczvi KvQ _ K GKwU IqvB KªvgRg c q _v K Qwe 2 Zvn j GKwU cyiy li KªvgRg `Lv Q KviY GLv b k li Rvov Z GKwU G I GKwU IqvB (XY) KªvgRg Av Q

4 Qwe 2: gv ci Kªgvbymv i 23 Rvov KªvgRg; KªvgRg 1 mepvb Z eo k li `ywu wj M wbav ik KªvgRg ev m KªvgRg e Kªg KªvgR gi Kv bv Ask hw` Ny i hvq hvi d j Zvi wkqz wrb wecixzg~lx n q c o Z e m Ae _v K KªvgRg e Kªg e j AwaKvsk Zª GB e Kªg H ai Yi KªvgRg enbkvixi ^v _ i Ic i Kv bv cöfve d j bv 9 gvzv-wczvi hw` Aweb KªvgRg _v K Z e me mgq wk Zv Zvu `i mš v bi g a mâvwiz nq? KªvgRg cwiez b Avgv `i Kv l KªvgRg c`v _ i mwvk fvimvg GKwU AZ š MyiyZ c~y welq, KviY KªvgR gi ga Kvi wrbb Kvl K wewfbœ Kv Ri Rb wb ` k `q KªvgR gi msl v, gvc ev MV bi h Kv bv cökvi cwiez b Zvi R bwuk wb ` ki cwigvb ev web vm K e`wj q dj Z cv i Ges, R bwuk wb ` ki cwigvb ev web vm e` j M j GKwU wkkyi g a wk v-acvimzv, c~y ZvcÖvwßKªg wejw ^Z niqv, ^v _ MZ RwUjZv, GgbZi bvbvb RwUjZv `Lv w` Z cv i KªvgRg cwiez b gvzv-wczvi KvQ _ KI Avm Z cv i mvaviyz ww ^vyy ev kykªvyy MwVZ nevi mg q, A_ev ww ^vyy I kykªvyy wgwjz nevi mg q ev Mf mâv ii mg q KªvgRg cwiez b n q _v K G ai Yi cwiez bi wel q Avgv `i wkqzb Kivi _v K bv Ggb Kv bv K_v bb, G KKwU Mf avi Y G KK ikg NUbv NU Z cv i: wkkywu G Kev ib ^vfvwek KªvgRg web vm wb q Rb wb Z cv i wkkywu gvzv ev wczvi b vq cybwe b KªvgRg wb q Rb wb Z cv i wkkywu wk v-acvimzv, c~y ZvcÖvwßKªg wejw ^Z niqv Ges ^v _ MZ RwUjZv wb q Rb wb Z cv i Mf cvz w` qi welqwu kl n Z cv i Zv n j `Lv hv Q h cybwe b KªvgRg enbkvix gvzv-wczvii my _- ^vfvwek mš vb Rb wb Z cv i, Ges A b KiB ZvB nq Zey, h nzz cöwzwu cybwe b vmb Abb ZvB cybwe b KªvgRg enbkvix gvzv-wczvi GKRb R bwuk we kl Ái mv _ Av jvpbv K i bqv DwPZ cybwe b KªvgRg wb q

8 mwbœ ekb cöavbz `ycökvi KªvgRg cwiez b n Z cv i 5 KªvgR gi ga _ K wkqz c`v_ ei n q Zvi wb RiB Ab Lv b ev Ab Kv bv KªvgR gi g a cö ek Kiv K KªvgRg mwbœ ekb e j h gvby li KªvgR gi g a KªvgRg c`v _ i ms hvrb ev we qvrb N Uwb m gvbyl mvaviyz my _ wkš y hvi KªvgR gi g a KªvgRg c`v _ i ms hvrb ev we qvrb N U Q Zvi wk v-acvimzv, c~y ZvcÖvwßKªg wejw ^Z niqv Ges ^v _ MZ RwUjZv `Lv w` Z cv i KªvgR gi msl vq cwiez b GUv n Q, GKUv we kl KªvgR gi h ZvMywj Kwc niqv cö qvrb Zvi PvB Z hlb ewk ev Kg msl K KªvgR gi Kwc _v K KªvgR gi MV b cwiez b GUv n Q, hlb GKwU KªvgR gi c`v_ Kv bvfv e f M M Q ev cybwe b n q M Q Ggb n Z cv i hw` KªvgR gi c`v_ e o ev K g hvq GB wjd j U Avgiv KªvgRg we jvcb, KªvgRg wømywyz niqv, KªvgRg mwbœ ekb, KªvgRg e Kªg I PKª m ú K Rvbe Avcwb hw` KªvgRg _vbvš i m ú K Rvb Z Pvb Zv n j KªvgRg _vbvš i m úwk Z wjd ju `Lyb KªvgRg msl vq cwiez b PKª GKwU KªvgR gi cövš Øq hw` mshy³ n q e ËvKvi n q hvq Z e Zv K KªvgRg PKª e j hw` GKwU KªvgR gi cövš Øq Kv bvkª g Aejyß n q hvq Zv n j mvaviyz GgbwU n q _v K cövš Øq ZLb AvVv jv n q hvq I Zviv G K A b i mv _ Rvov j M PKªvK wz n q hvq GB cöwkªqvq K ZvUv Kª gvrg c`v_ ev Z_ webó n q Q Zvi Ici wbf i Ki e Ggb Ae _vq GKR bi Ici Kx ai Yi cöfve co Z cv i mvaviyz GK R bi kix ii cöwzuv Kv l 46wU KªvgRg _v K Aek gv Sg a `y-gkrb wkky ek wkqz ewk ev Kg KªvgRg wb q Rb bq m Zª m wkkywui cö qvrbxq wb ` k `evi Rb wbðb ek wkqz ewk ev Kg wrb _v K R bwuk RwUjZvi G ai Yi GKwU D`vniY n jv GKwU KªvgRg ewk hv K WvDb wmbwªg e j hv `i GB RwUjZv _v K Zv `i Kv l 46wUi cwie Z 47wU KªvgRg _v K Zv `i 21 b ^i Rvovi hvqmvq ^vfvwek Rvovi e` j wzbwu KªvgRg _v K

6 Qwe 3: WvDb wmb Wªvghy³ GKwU g qi KªvgRg ( k li Rvovq XX Kª gvrg) 21 b ^ i `ywui e` j wzbwu KªvgRg _vbvš i Avcwb hw` KªvgRg _vbvš i m ú K Rvb Z Pvb Zv n j KªvgRg _vbvš i m úwk Z wjd ju `Lyb 7 we jvcb KªvgRg we jvcb n Q GKwU KªvgRg Zvi Askwe kl nvwi q d j Q, A_ev gy Q d j Q GB we jvcb h Kv bv KªvgR g n Z cv i, Avevi KªvgR gi h Kv bv As k n Z cv i we jvc bi AvKviI h Kv bv gv ci n Z cv i hw` GB we jvcb wr bi Ggb GKwU As k n q _v K hlvb _ K MyiyZ c~y wb ` k Avm Zv Zv n j m wkkywui wk v-acvimzv, c~y ZvcÖvwßKªg wejw ^Z niqv, ^v _ MZ RwUjZv `Lv w` Z cv i GB RwUjZv K ZvUv MyiyZ c~y Zv wbf i Ki e K ZvUv Kª gvrg gy Q M Q, Ges muv Kv_vq KªvgRg MV b cwiez b Kv bvfv e Kv bv GKwU KªvgRg f M wm q Zvi c`v_ My jv hlb cybwe bv n q hvq ZLb KªvgRg MV b cwiez b ewj GLv b wkqz KªvgRg c`v_ g~j KªvgR gi mv _ hy³ n Z cv i ev mlvb _ K nvwi q h Z cv i ek K ZvMy jv Kvi Y GgbwU n Z cv i hv c i Av jvpbv Kiv n q Q KªvgRg MV b cwiez b weávbx `i Rb j ve iuwi Z mbv³ Kiv GKwU AZ š k³ KvR Ggb wk G ai Yi cwiez b GKwU wkkyi Ici Kx ai Yi cöfve we vi Ki Z cv i ZvI Abygvb Kiv KwVb GwU gvzv-wczvi Rb mwz B GKwU nzvkve väk K_v wømywyz niqv KªvgRg wømywyz niqvi A_ n Q, KªvgR gi Ask we kl wømywyz n q hviqv hv Z K i mb KªvgR g KªvgRg c`v _ i AvwaK `Lv hvq GB AwZwi³ Kª gvrg c`v_ kixi K cö qvr bi PvB Z AwaK cwigvb wb ` k w` Z _vk e hv Z K i wkky `i g a wk v- AcviMZv, c~y ZvcÖvwßKªg wejw ^Z niqv Ges ^v _ MZ RwUjZv `Lv w` Z cv i