{"id":104423,"date":"2022-01-31T00:00:00","date_gmt":"2022-01-31T00:00:00","guid":{"rendered":"https:\/\/docosan-blog.local\/blog\/uncategorized\/hoi-chung-beckwith-wiedemann\/"},"modified":"2022-08-31T00:00:00","modified_gmt":"2022-08-31T00:00:00","slug":"hoi-chung-beckwith-wiedemann","status":"publish","type":"post","link":"https:\/\/www.docosan.com\/blog\/nhi\/hoi-chung-beckwith-wiedemann\/","title":{"rendered":"H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann khi\u1ebfn tr\u1ebb t\u0103ng tr\u01b0\u1edfng qu\u00e1 m\u1ee9c"},"content":{"rendered":"\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn nhi\u1ec1u h\u1ec7 th\u1ed1ng c\u01a1 th\u1ec3, trong \u0111\u00f3 tr\u1ebb sinh ra ph\u00e1t tri\u1ec3n qu\u00e1 m\u1ee9c hay n\u00f3i c\u00e1ch kh\u00e1c l\u1edbn h\u01a1n \u0111\u00e1ng k\u1ec3 so v\u1edbi tr\u1ebb b\u00ecnh th\u01b0\u1eddng. H\u00e3y c\u00f9ng Docosan<\/a> t\u00ecm hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 h\u1ed9i ch\u1ee9ng n\u00e0y qua b\u00e0i vi\u1ebft d\u01b0\u1edbi \u0111\u00e2y.<\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 g\u00ec ?<\/h2>\n\n\n\n
\"h\u1ed9i
H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann khi\u1ebfn tr\u1ebb t\u0103ng tr\u01b0\u1edfng qu\u00e1 m\u1ee9c<\/figcaption><\/figure>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 m\u1ed9t trong c\u00e1c h\u1ed9i ch\u1ee9ng b\u1ec7nh b\u1ea9m sinh, h\u1ed9i ch\u1ee9ng n\u00e0y kh\u00f4ng ch\u1ec9 khi\u1ebfn cho tr\u1ebb ph\u00e1t tri\u1ec3n qu\u00e1 m\u1ee9c, m\u00e0 c\u00f2n \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn t\u1ea5t c\u1ea3 c\u00e1c h\u1ec7 th\u1ed1ng c\u01a1 quan trong c\u01a1 th\u1ec3. <\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng n\u00e0y \u0111\u01b0\u1ee3c b\u00e1c s\u0129 b\u1ec7nh nhi ng\u01b0\u1eddi M\u1ef9 J. Bruce Beckwith v\u00e0 b\u00e1c s\u0129 di truy\u1ec1n h\u1ecdc ng\u01b0\u1eddi \u0110\u1ee9c HE Wiedemann n\u00eau l\u00ean l\u1ea7n \u0111\u1ea7u ti\u00ean v\u00e0o n\u0103m 1963-1964. C\u1eb7p \u0111\u00f4i nh\u1eadn th\u1ea5y r\u1eb1ng nh\u1eefng \u0111\u1ee9a tr\u1ebb c\u00f3 m\u1ed9t lo\u1ea1t c\u00e1c b\u1ea5t th\u01b0\u1eddng b\u1ea9m sinh kh\u00f4ng \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong b\u1ea5t k\u1ef3 b\u1ec7nh n\u00e0o kh\u00e1c – n\u00f3i c\u00e1ch kh\u00e1c, \u0111\u00e2y l\u00e0 m\u1ed9t h\u1ed9i ch\u1ee9ng m\u1edbi. Ch\u00ednh s\u1ef1 ph\u00e1t hi\u1ec7n \u0111\u00f3 \u0111\u00e3 khi\u1ebfn cho h\u1ed9i ch\u1ee9ng n\u00e0y \u0111\u01b0\u1ee3c \u0111\u1eb7t theo t\u00ean c\u1ee7a 2 v\u1ecb b\u00e1c s\u0129 tr\u00ean l\u00e0 Beckwith-Wiedemann. <\/p>\n\n\n\n

X\u00e1c su\u1ea5t b\u1eaft g\u1eb7p h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 1: 15000. Trong ph\u1ea7n l\u1edbn c\u00e1c tr\u01b0\u1eddng h\u1ee3p, Beckwith-Wiedemann l\u00e0 m\u1ed9t h\u1ed9i ch\u1ee9ng kh\u00f4ng li\u00ean quan \u0111\u1ebfn ti\u1ec1n s\u1eed gia \u0111\u00ecnh, nh\u01b0ng c\u00f3 m\u1ed9t s\u1ed1 b\u1eb1ng ch\u1ee9ng cho th\u1ea5y n\u00f3 c\u00f3 t\u00ednh di truy\u1ec1n.<\/p>\n\n\n\n

Nguy\u00ean nh\u00e2n H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann <\/h2>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann c\u00f3 m\u1ed9t s\u1ed1 ngu\u1ed3n g\u1ed1c di truy\u1ec1n. C\u0103n b\u1ec7nh n\u00e0y th\u01b0\u1eddng do s\u1ef1 \u0111i\u1ec1u h\u00f2a c\u1ee7a gen b\u1ecb l\u1ed7i trong m\u1ed9t khu v\u1ef1c c\u1ee5 th\u1ec3 c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 11. Nhi\u1ec5m s\u1eafc th\u1ec3 n\u00e0y th\u01b0\u1eddng \u0111\u01b0\u1ee3c di truy\u1ec1n m\u1ed9t t\u1eeb b\u1ed1 v\u00e0 m\u1ed9t t\u1eeb m\u1eb9. Trong t\u1ebf b\u00e0o, c\u1ea3 hai b\u1ea3n sao c\u1ee7a h\u1ea7u h\u1ebft c\u00e1c gen tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 11 \u0111\u1ec1u \u0111\u01b0\u1ee3c bi\u1ec3u hi\u1ec7n.<\/p>\n\n\n\n

Tuy nhi\u00ean \u0111\u00f4i l\u00fac c\u0169ng ch\u1ec9 b\u1ea3n sao \u0111\u01b0\u1ee3c th\u1eeba k\u1ebf t\u1eeb cha m\u1edbi \u0111\u01b0\u1ee3c bi\u1ec3u hi\u1ec7n c\u00f2n c\u1ee7a m\u1eb9 th\u00ec kh\u00f4ng v\u00e0 ng\u01b0\u1ee3c l\u1ea1i, trong m\u1ed9t s\u1ed1 gen kh\u00e1c b\u1ea3n sao \u0111\u01b0\u1ee3c th\u1eeba k\u1ebf t\u1eeb m\u1eb9 c\u1ee7a m\u1ed9t ng\u01b0\u1eddi m\u1edbi \u0111\u01b0\u1ee3c bi\u1ec3u hi\u1ec7n nh\u01b0ng c\u1ee7a b\u1ed1 th\u00ec kh\u00f4ng.<\/p>\n\n\n\n

Nh\u1eefng kh\u00e1c bi\u1ec7t c\u1ee5 th\u1ec3 c\u1ee7a cha m\u1eb9 trong bi\u1ec3u hi\u1ec7n gen l\u00e0 do m\u1ed9t hi\u1ec7n t\u01b0\u1ee3ng g\u1ecdi l\u00e0 in d\u1ea5u b\u1ed9 gen. Nh\u1eefng b\u1ea5t th\u01b0\u1eddng li\u00ean quan \u0111\u1ebfn c\u00e1c gen tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 11 tr\u1ea3i qua qu\u00e1 tr\u00ecnh in d\u1ea5u b\u1ed9 gen l\u00e0 nguy\u00ean nh\u00e2n g\u00e2y ra h\u1ea7u h\u1ebft c\u00e1c tr\u01b0\u1eddng h\u1ee3p h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann.<\/p>\n\n\n\n

\"h\u1ed9i
H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann khi\u1ebfn tr\u1ebb t\u0103ng tr\u01b0\u1edfng qu\u00e1 m\u1ee9c<\/figcaption><\/figure>\n\n\n\n

Nh\u1eefng thay \u0111\u1ed5i trong m\u1ed9t qu\u00e1 tr\u00ecnh \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 qu\u00e1 tr\u00ecnh metyl h\u00f3a l\u00e0 nguy\u00ean nh\u00e2n c\u1ee7a \u00edt nh\u1ea5t m\u1ed9t n\u1eeda s\u1ed1 tr\u01b0\u1eddng h\u1ee3p m\u1eafc H\u1ed9i ch\u1ee9ng n\u00e0y. Methyl h\u00f3a l\u00e0 t\u1eeb d\u00f9ng mi\u00eau t\u1ea3 qu\u00e1 tr\u00ecnh c\u00e1c ph\u00e2n t\u1eed nh\u1ecf g\u1ecdi l\u00e0 nh\u00f3m metyl \u0111\u01b0\u1ee3c g\u1eafn v\u00e0o c\u00e1c chu\u1ed7i DNA c\u1ee5 th\u1ec3.<\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann th\u01b0\u1eddng li\u00ean quan \u0111\u1ebfn nh\u1eefng b\u1ea5t th\u01b0\u1eddng \u1edf c\u00e1c trung t\u00e2m in d\u1ea5u, l\u00e0 c\u00e1c v\u00f9ng DNA tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 11. (IC). Qu\u00e1 tr\u00ecnh methyl h\u00f3a c\u00e1c gen kh\u00e1c nhau r\u1ea5t quan tr\u1ecdng trong s\u1ef1 ph\u00e1t tri\u1ec3n th\u00edch h\u1ee3p, bao g\u1ed3m CDKN1C, H19, IGF2 v\u00e0 KCNQ1OT1, \u0111\u01b0\u1ee3c ki\u1ec3m so\u00e1t b\u1edfi c\u00e1c vi m\u1ea1ch. Vi\u1ec7c ki\u1ec3m so\u00e1t c\u00e1c gen n\u00e0y b\u1ecb gi\u00e1n \u0111o\u1ea1n b\u1edfi qu\u00e1 tr\u00ecnh methyl h\u00f3a b\u1ea5t th\u01b0\u1eddng, d\u1eabn \u0111\u1ebfn s\u1ef1 ph\u00e1t tri\u1ec3n qu\u00e1 m\u1ee9c v\u00e0 c\u00e1c tri\u1ec7u ch\u1ee9ng li\u00ean quan c\u1ee7a h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann.<\/p>\n\n\n\n

M\u1ed9t d\u1ea1ng \u0111\u1ed9t bi\u1ebfn di truy\u1ec1n \u0111\u01b0\u1ee3c bi\u1ebft \u0111\u1ebfn nh\u01b0 l\u00e0 m\u1ed9t lo\u1ea1i b\u1ec7nh v\u1edbi t\u00ean g\u1ecdi uniparental disomy g\u00e2y ra kho\u1ea3ng 20% \u200b\u200bc\u00e1c tr\u01b0\u1eddng h\u1ee3p m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann (UPD). Thay v\u00ec m\u1ed9t b\u1ea3n sao ho\u1ea1t \u0111\u1ed9ng t\u1eeb cha v\u00e0 m\u1ed9t b\u1ea3n sao kh\u00f4ng ho\u1ea1t \u0111\u1ed9ng t\u1eeb m\u1eb9, nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh UPD \u1edf cha c\u00f3 hai b\u1ea3n sao ho\u1ea1t \u0111\u1ed9ng c\u1ee7a c\u00e1c gen di truy\u1ec1n t\u1eeb cha.<\/p>\n\n\n\n

Nh\u1eefng ng\u01b0\u1eddi b\u1ecb UPD \u1edf cha c\u0169ng b\u1ecb thi\u1ebfu c\u00e1c gen ch\u1ec9 ho\u1ea1t \u0111\u1ed9ng tr\u00ean b\u1ea3n sao nhi\u1ec5m s\u1eafc th\u1ec3 \u0111\u01b0\u1ee3c di truy\u1ec1n t\u1eeb m\u1eb9. UPD \u1edf ng\u01b0\u1eddi m\u1eb9 x\u1ea3y ra s\u1edbm trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n ph\u00f4i thai trong h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann v\u00e0 ch\u1ec9 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o nh\u1ea5t \u0111\u1ecbnh c\u1ee7a c\u01a1 th\u1ec3. Th\u1ec3 kh\u1ea3m (Mosaicism) l\u00e0 thu\u1eadt ng\u1eef ch\u1ec9 hi\u1ec7n t\u01b0\u1ee3ng n\u00e0y. C\u00e1c d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng c\u1ee7a b\u1ec7nh UPD th\u1ec3 kh\u1ea3m \u1edf ng\u01b0\u1eddi cha l\u00e0 do s\u1ef1 m\u1ea5t c\u00e2n b\u1eb1ng trong c\u00e1c gen ho\u1ea1t \u0111\u1ed9ng c\u1ee7a ng\u01b0\u1eddi cha v\u00e0 ng\u01b0\u1eddi m\u1eb9 tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 11, l\u00e0 nguy\u00ean nh\u00e2n c\u1ee7a t\u00ecnh tr\u1ea1ng n\u00e0y.<\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 do c\u00e1c bi\u1ebfn th\u1ec3 (c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 \u0111\u1ed9t bi\u1ebfn) trong gen CDKN1C g\u00e2y ra. Gen n\u00e0y ch\u1ec9 \u0111\u1ea1o s\u1ea3n xu\u1ea5t m\u1ed9t lo\u1ea1i protein h\u1ed7 tr\u1ee3 qu\u00e1 tr\u00ecnh \u0111i\u1ec1u ch\u1ec9nh t\u0103ng tr\u01b0\u1edfng tr\u01b0\u1edbc khi sinh. C\u00e1c bi\u1ebfn th\u1ec3 trong gen CDKN1C h\u1ea1n ch\u1ebf protein n\u00e0y \u0111i\u1ec1u ch\u1ec9nh s\u1ef1 t\u0103ng tr\u01b0\u1edfng, d\u1eabn \u0111\u1ebfn c\u00e1c b\u1ea5t th\u01b0\u1eddng c\u1ee7a h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann.<\/p>\n\n\n\n

Sai l\u1ec7ch nhi\u1ec5m s\u1eafc th\u1ec3 nh\u01b0 s\u1eafp x\u1ebfp l\u1ea1i (chuy\u1ec3n v\u1ecb), sao ch\u00e9p b\u1ea5t th\u01b0\u1eddng (nh\u00e2n \u0111\u00f4i) ho\u1eb7c m\u1ea5t (m\u1ea5t \u0111o\u1ea1n) v\u1eadt li\u1ec7u di truy\u1ec1n t\u1eeb nhi\u1ec5m s\u1eafc th\u1ec3 11 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn 6% b\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann. Nh\u1eefng d\u1ecb th\u01b0\u1eddng n\u00e0y, gi\u1ed1ng nh\u01b0 nh\u1eefng thay \u0111\u1ed5i di truy\u1ec1n kh\u00e1c g\u00e2y ra h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann, l\u00e0m r\u1ed1i lo\u1ea1n s\u1ef1 ki\u1ec3m so\u00e1t b\u00ecnh th\u01b0\u1eddng c\u1ee7a c\u00e1c gen c\u1ee5 th\u1ec3 tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 n\u00e0y.<\/p>\n\n\n\n

Tri\u1ec7u ch\u1ee9ng b\u1ec7nh H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann <\/h2>\n\n\n\n

C\u00e1c d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng c\u1ee7a h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann kh\u00e1c nhau \u1edf m\u1ed7i ng\u01b0\u1eddi. Khi\u1ebfm khuy\u1ebft \u1edf th\u00e0nh b\u1ee5ng (Omphalocele) l\u00e0 m\u1ed9t l\u1ed7 tr\u00ean th\u00e0nh b\u1ee5ng khi\u1ebfn c\u00e1c c\u01a1 quan trong \u1ed5 b\u1ee5ng t\u1ee5t ra v\u1ecb tr\u00ed ban \u0111\u1ea7u qua l\u1ed7 \u1edf b\u1ee5ng \u0111\u00f3. C\u00e1c b\u1ea5t th\u01b0\u1eddng kh\u00e1c \u1edf th\u00e0nh b\u1ee5ng c\u0169ng th\u01b0\u1eddng xuy\u00ean x\u1ea3y ra, ch\u1eb3ng h\u1ea1n nh\u01b0 tho\u00e1t v\u1ecb r\u1ed1n. <\/p>\n\n\n\n

K\u00edch th\u01b0\u1edbc c\u01a1 th\u1ec3 l\u1edbn h\u01a1n b\u1ea5t th\u01b0\u1eddng so v\u1edbi chu\u1ea9n m\u1ef1c c\u1ee7a tr\u1ebb m\u1edbi sinh. Khi 8 tu\u1ed5i, t\u1ed1c \u0111\u1ed9 t\u0103ng tr\u01b0\u1edfng ch\u1eadm l\u1ea1i v\u00e0 ng\u01b0\u1eddi l\u1edbn m\u1eafc h\u1ed9i ch\u1ee9ng n\u00e0y c\u0169ng kh\u00f4ng qu\u00e1 cao l\u1edbn. <\/p>\n\n\n\n

L\u01b0\u1ee1i c\u1ee7a m\u1ed9t s\u1ed1 tr\u1ebb s\u01a1 sinh m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann qu\u00e1 l\u1edbn (macroglossia), c\u00f3 th\u1ec3 g\u00e2y kh\u00f3 kh\u0103n cho vi\u1ec7c th\u1edf, nu\u1ed1t v\u00e0 n\u00f3i. <\/p>\n\n\n\n

C\u00e1c d\u1ea5u hi\u1ec7u n\u1ed5i b\u1eadt kh\u00e1c c\u1ee7a r\u1ed1i lo\u1ea1n n\u00e0y bao g\u1ed3m gan to (c\u00e1c c\u01a1 quan \u1edf b\u1ee5ng to b\u1ea5t th\u01b0\u1eddng), n\u1ebfp nh\u0103n ho\u1eb7c v\u1ebft r\u1ed7 \u1edf da g\u1ea7n tai, h\u1ea1 \u0111\u01b0\u1eddng huy\u1ebft (l\u01b0\u1ee3ng \u0111\u01b0\u1eddng trong m\u00e1u th\u1ea5p) \u1edf th\u1eddi th\u01a1 \u1ea5u v\u00e0 b\u1ea5t th\u01b0\u1eddng v\u1ec1 th\u1eadn.<\/p>\n\n\n\n

Tr\u1ebb em m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann c\u00f3 nguy c\u01a1 cao ph\u00e1t tri\u1ec3n c\u00e1c kh\u1ed1i u \u00e1c t\u00ednh v\u00e0 c\u00e1c u l\u00e0nh t\u00ednh kh\u00e1c, bao g\u1ed3m kh\u1ed1i u Wilms, ung th\u01b0 th\u1eadn v\u00e0 u nguy\u00ean b\u00e0o gan, ung th\u01b0 gan. C\u00e1c kh\u1ed1i u ph\u00e1t sinh \u1edf kho\u1ea3ng 10% b\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng n\u00e0y, v\u00e0 h\u1ea7u nh\u01b0 th\u01b0\u1eddng bi\u1ec3u hi\u1ec7n trong th\u1eddi th\u01a1 \u1ea5u. <\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann kh\u00f4ng g\u00e2y ra c\u00e1c v\u1ea5n \u0111\u1ec1 y t\u1ebf \u0111\u00e1ng k\u1ec3 \u1edf \u0111a s\u1ed1 tr\u1ebb em v\u00e0 ng\u01b0\u1eddi l\u1edbn. Trong h\u1ea7u h\u1ebft c\u00e1c tr\u01b0\u1eddng h\u1ee3p, tu\u1ed5i th\u1ecd c\u1ee7a h\u1ecd v\u1eabn b\u00ecnh th\u01b0\u1eddng.<\/p>\n\n\n\n

\"h\u1ed9i
H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann khi\u1ebfn tr\u1ebb t\u0103ng tr\u01b0\u1edfng qu\u00e1 m\u1ee9c<\/figcaption><\/figure>\n\n\n\n

\u0110\u1ed1i t\u01b0\u1ee3ng nguy c\u01a1 m\u1eafc H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann<\/h2>\n\n\n\n
\"h\u1ed9i
H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann khi\u1ebfn tr\u1ebb t\u0103ng tr\u01b0\u1edfng qu\u00e1 m\u1ee9c<\/figcaption><\/figure>\n\n\n\n

Ng\u01b0\u1eddi trong gia \u0111\u00ecnh c\u00f3 ng\u01b0\u1eddi m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann<\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann kh\u00f4ng ph\u1ea3i l\u00e0 b\u1ec7nh truy\u1ec1n nhi\u1ec5m, do \u0111\u00f3, kh\u00f4ng c\u00f3 kh\u1ea3 n\u0103ng l\u00e2y truy\u1ec1n t\u1eeb ng\u01b0\u1eddi b\u1ec7nh sang ng\u01b0\u1eddi kh\u1ecfe m\u1ea1nh.<\/p>\n\n\n\n

Ch\u1ec9 m\u1ed9t c\u00e1 nh\u00e2n trong m\u1ed9t gia \u0111\u00ecnh \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann trong kho\u1ea3ng 85% tr\u01b0\u1eddng h\u1ee3p. M\u1eb7t kh\u00e1c, cha m\u1eb9 c\u1ee7a m\u1ed9t \u0111\u1ee9a tr\u1ebb m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann c\u00f3 th\u1ec3 c\u00f3 nguy c\u01a1 sinh th\u00eam nh\u1eefng \u0111\u1ee9a con m\u1eafc b\u1ec7nh n\u00e0y. Nguy c\u01a1 n\u00e0y \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh b\u1edfi c\u0103n nguy\u00ean di truy\u1ec1n c\u1ee7a t\u00ecnh tr\u1ea1ng b\u1ec7nh. <\/p>\n\n\n\n

10% \u0111\u1ebfn 15% b\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 nh\u1eefng ng\u01b0\u1eddi s\u1ed1ng trong c\u00e1c gia \u0111\u00ecnh c\u00f3 h\u01a1n m\u1ed9t th\u00e0nh vi\u00ean trong gia \u0111\u00ecnh b\u1ecb b\u1ec7nh n\u00e0y. B\u1ec7nh d\u01b0\u1eddng nh\u01b0 \u0111\u01b0\u1ee3c di truy\u1ec1n theo ki\u1ec3u tr\u1ed9i tr\u00ean NST th\u01b0\u1eddng trong ph\u1ea7n l\u1edbn c\u00e1c gia \u0111\u00ecnh n\u00e0y.<\/p>\n\n\n\n

T\u00f9y thu\u1ed9c v\u00e0o vi\u1ec7c cha m\u1eb9 n\u00e0o \u0111\u00e3 truy\u1ec1n b\u1ea3n sao b\u1ecb thay \u0111\u1ed5i cho h\u1ecd, m\u1ed9t ng\u01b0\u1eddi th\u1eeba h\u01b0\u1edfng gen \u0111\u1ed9t bi\u1ebfn c\u00f3 th\u1ec3 g\u1eb7p ho\u1eb7c kh\u00f4ng g\u1eb7p b\u1ea5t k\u1ef3 d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng \u0111i\u1ec3n h\u00ecnh n\u00e0o c\u1ee7a t\u00ecnh tr\u1ea1ng n\u00e0y. Nh\u1eefng ng\u01b0\u1eddi m\u1eafc h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann th\u1eeba h\u01b0\u1edfng \u0111\u1ed9t bi\u1ebfn gen t\u1eeb m\u1eb9 c\u1ee7a h\u1ecd trong ph\u1ea7n l\u1edbn c\u00e1c tr\u01b0\u1eddng h\u1ee3p do bi\u1ebfn th\u1ec3 gen CDKN1C g\u00e2y ra.<\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 do s\u1ef1 thay \u0111\u1ed5i c\u1ea5u tr\u00fac c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 11 trong m\u1ed9t t\u1ef7 l\u1ec7 nh\u1ecf c\u00e1c tr\u01b0\u1eddng h\u1ee3p. M\u1ed9t s\u1ed1 d\u1ecb th\u01b0\u1eddng nhi\u1ec5m s\u1eafc th\u1ec3 n\u00e0y \u0111\u01b0\u1ee3c di truy\u1ec1n t\u1eeb cha m\u1eb9, trong khi m\u1ed9t s\u1ed1 kh\u00e1c x\u1ea3y ra nh\u01b0 nh\u1eefng s\u1ef1 ki\u1ec7n ng\u1eabu nhi\u00ean trong qu\u00e1 tr\u00ecnh h\u00ecnh th\u00e0nh t\u1ebf b\u00e0o sinh s\u1ea3n (tr\u1ee9ng v\u00e0 tinh tr\u00f9ng) ho\u1eb7c trong giai \u0111o\u1ea1n s\u1edbm nh\u1ea5t c\u1ee7a ph\u00e1t tri\u1ec3n tr\u01b0\u1edbc khi sinh.<\/p>\n\n\n\n

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 m\u1ed9t trong c\u00e1c h\u1ed9i ch\u1ee9ng b\u1ec7nh b\u1ea9m sinh, khi\u1ebfn cho tr\u1ebb ph\u00e1t tri\u1ec3n qu\u00e1 m\u1ee9c, \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn t\u1ea5t c\u1ea3 c\u00e1c h\u1ec7 th\u1ed1ng c\u01a1 quan trong c\u01a1 th\u1ec3. C\u00e1c d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng c\u1ee7a h\u1ed9i ch\u1ee9ng Beckwith-Wiedemann kh\u00e1c nhau \u1edf m\u1ed7i ng\u01b0\u1eddi. <\/p>\n\n\n\n

B\u00e0i vi\u1ebft \u0111\u01b0\u1ee3c tham kh\u1ea3o t\u1eeb b\u00e1c s\u0129 v\u00e0 c\u00e1c ngu\u1ed3n t\u01b0 li\u1ec7u \u0111\u00e1ng tin c\u1eady trong v\u00e0 ngo\u00e0i n\u01b0\u1edbc. Tuy nhi\u00ean, Docosan Team khuy\u1ebfn kh\u00edch b\u1ec7nh nh\u00e2n h\u00e3y t\u00ecm v\u00e0 \u0111\u1eb7t l\u1ecbch h\u1eb9n v\u1edbi b\u00e1c s\u0129 c\u00f3 chuy\u00ean m\u00f4n \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb.<\/em><\/p>\n\n\n\n

Ngu\u1ed3n: medlineplus.gov <\/strong> <\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

H\u1ed9i ch\u1ee9ng Beckwith-Wiedemann l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn nhi\u1ec1u h\u1ec7 th\u1ed1ng c\u01a1 th\u1ec3, trong \u0111\u00f3 tr\u1ebb sinh ra ph\u00e1t tri\u1ec3n qu\u00e1 m\u1ee9c hay n\u00f3i c\u00e1ch kh\u00e1c l\u1edbn h\u01a1n \u0111\u00e1ng k\u1ec3 so v\u1edbi tr\u1ebb b\u00ecnh th\u01b0\u1eddng. H\u00e3y c\u00f9ng Docosan t\u00ecm hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 h\u1ed9i ch\u1ee9ng n\u00e0y qua b\u00e0i vi\u1ebft d\u01b0\u1edbi \u0111\u00e2y. H\u1ed9i ch\u1ee9ng […]<\/p>\n","protected":false},"author":7,"featured_media":91852,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[59],"tags":[],"class_list":["post-104423","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-nhi"],"acf":[],"featured_image_src":"https:\/\/www.docosan.com\/blog\/wp-content\/uploads\/2022\/01\/Hoi-chung-Beckwith-Wiedemann-4-600x400.jpg","featured_image_src_square":"https:\/\/www.docosan.com\/blog\/wp-content\/uploads\/2022\/01\/Hoi-chung-Beckwith-Wiedemann-4-600x533.jpg","author_info":{"display_name":"D\u01b0\u1ee3c s\u0129, Th\u1ea1c s\u0129 Nguy\u1ec5n Th\u1ecb Thanh T\u00fa","author_link":"https:\/\/www.docosan.com\/blog\/author\/tunguyen\/"},"_links":{"self":[{"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/posts\/104423","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/comments?post=104423"}],"version-history":[{"count":0,"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/posts\/104423\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/media\/91852"}],"wp:attachment":[{"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/media?parent=104423"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/categories?post=104423"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.docosan.com\/blog\/wp-json\/wp\/v2\/tags?post=104423"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}