02 hội chứng joubert do đột biến dị hợp tử kép gen tmem237

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

+BN38 tuoi, dug i thi ti tht hién TTTON cd PGT-M
+2009: sinh con chm phat trién tim thin van dng nung chya cd
chan dodn dc hu

+2019: thai ty nbn 30 twin edn bé lon ho sau (1mm, du higu

3ng bi, than líchthướt lớn tà tổng âm, mất phan bet vou)
(4500 sia nh” ba me, dich iva cdbé ln tre

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),