Hoi chiéng Joubert do dot bien di hop ti kép gen TMEM37; bao cdo cava hoi cuvin Bs, Thal Dogn Minh Bệnh tiện ý Duc HOLNGH SIEU AM TOAN QUOC LAN THU shu YSU THEA NATIONAL CONGRESSF VIETNAMESE SOCIETY OF ULTRASOUND NMEDCINE ‘Tho pul 0-09 thing mbm 024 Hue Cy, March 08H, 204 THAI 16TUAN THAI LAN 2} bENHSt Thai phy33 tu, khong c ao ohoi cin huet Qua trinh Kham thai 4 Thoat vi no ving cham phat higm titan 12 Tie sit: thai in 4 tudn 20 *Dau higu ring ci + Thodt vi mang ndo ving chém *Dthdn tang am, tang kich thud CA LAM SANG4 Két qua choc Oi (thai an 1 ‘kJa(GH va G4500 cha phat hién bt thudng CA LAM SANG4 + Choc Gi tun 16 thal n 2), tut hign WES: sna duge bdo cdo trén (lu CA LAM SANG1 NM, 001044385,3; 633 Pht nbn tl yp | II: Pit id th p.Tep2t2G\sTert6) CALAM SANG1 sm) Gen W Vi Witt rea? AMOS ass | gues: Ih pt bt pipes CA LAM SANG4 ' t liến di tgp tie hep gen TMEMO37 voi ? liến thé mdi (.7945G>A va 633del) gay hoi ching Joubert +L ké hogch TTTON cd GT-M Od tran ht thug ti den ¢ in thi) YET NGHEEM DI TRUVENPHGNTEN LAM 10 Uutién chuyen J7" ane i i pitty |e mm Lis pipiens "| ancien LMH[NH LÍ me mi meet ¡} ÌtlU|0UAMIHIMÍ'NUỲM Chu phi db (EQ) HUNG sink Pi, ans HUA PHATHNT HUNG Chuyén phoi 6: beta CG am tinh 04/03/2024 Chuyén pho 3 CALAM SANG2 TMEMG7 (313.3156) (=Camef hàAnes} TMEMG? (725406) ¿ PGT-M Affected TMEMG?(c313_31%G)/ TMEME? (.7254>G] CALAM SANG2 2 Cha phtién dt bién dl hap thé [pt in: 725A Oj hop thin tng sk in dp 0000609) 7808), | Cn pti 1256: Oy 30) 130187 )(0H, | pti +10), 80) CA LAM SANG2 Hoi chitng Joubert = Hoi cfu van + Mt ln dau tidn boi Mare Joubert, tản 1969 M II NEUROLOGY Pani genes LEGEND; "YoAO DARD{ ofthe cerebellar vermis [lu () Sbship of sine 8, oll norm A smndtone of eno hyperpnea abnormal je 0lìmh (Absence ctocs tvemens, ata, nd retrain + Dochowed () Microcephaly Ml nt, aoei MD, 4 Abortion Wdysgnneisof cerebellar vermis 1 ih a d, et ar, Fig Peg Df, ALD ca, 1, Cat Ca ad 1 06 +Tye: 1,7 trong 100.000 tr sinh sng 0-19 tu ôi + "Molar tooth sign” = dw hiu rng cl (MRI sieu am) wr: Neuyén nhan "Tr4e0 gnen dd dure xdcdinhà nguyện nhân (94% trrdng ho’) +Da phan di truyén gen intr NST thug, OFDL (Oral Fail Syndrome 1) di ruyén ln lién kt NSTX Chane | | | It | v Cider het ¬ iki ( | Bat thing ldng chuyén nguyén phat va tát hệ tử quan liénquan Kigu hinh chongap voi caccliopatlhúyt Kho túc địh Mite 40 nang tong quan 10 tia hệt lin rang Kieu gen: quan voi loi Kieu inh dat bign gen Dot bien dich Kundtgbi,én vd ft tặng li dot ign sal nha Da dang ieuhinh :Fig, 2 Clinica eure in Jobe yon, A, Fv feats git wih ISICOACH syd a 27 mons f age Showing vod free, arched eyehàn stabs, eed pion ghee), and open mouth conratin indicating fede facil on, B, Oral finns i id withmire symie eats of 5 showing in pp lp aowbed), lin proof gu, and ban th ower leo ig (aon) Left an of nina with 1S and postal polyactyly (arom)D,Lf foo of an infant with 5 and pei polyydatyy andfson oth hlu, B, View fom above ofan infant with mal cit nepal with rion of the xp of th skal (ao), (Fal photograph wed wih pein ofthe family) (Previously pli n(73} with permison),