{"id":4307,"date":"2022-11-09T01:01:43","date_gmt":"2022-11-09T01:01:43","guid":{"rendered":"https:\/\/lpfch.org\/unraveling-the-mysteries-of-22q11-2-deletion-syndrome\/"},"modified":"2024-11-22T20:21:29","modified_gmt":"2024-11-22T20:21:29","slug":"unraveling-the-mysteries-of-22q11-2-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/lpfch.org\/vi\/impact-stories\/unraveling-the-mysteries-of-22q11-2-deletion-syndrome\/","title":{"rendered":"Gi\u1ea3i m\u00e3 nh\u1eefng b\u00ed \u1ea9n c\u1ee7a h\u1ed9i ch\u1ee9ng m\u1ea5t \u0111o\u1ea1n 22q11.2"},"content":{"rendered":"

Tr\u1eeb khi gia \u0111\u00ecnh b\u1ea1n b\u1ecb \u1ea3nh h\u01b0\u1edfng b\u1edfi h\u1ed9i ch\u1ee9ng m\u1ea5t \u0111o\u1ea1n 22q11.2 (22q11.2DS), c\u00f3 th\u1ec3 b\u1ea1n ch\u01b0a t\u1eebng nghe \u0111\u1ebfn n\u00f3. \u01af\u1edbc t\u00ednh c\u1ee9 2.000 \u0111\u1ebfn 4.000 tr\u1ebb s\u01a1 sinh th\u00ec c\u00f3 m\u1ed9t tr\u1ebb m\u1eafc ch\u1ee9ng r\u1ed1i lo\u1ea1n di truy\u1ec1n n\u00e0y. Nghe c\u00f3 v\u1ebb hi\u1ebfm g\u1eb7p, nh\u01b0ng n\u00f3 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn nhi\u1ec1u v\u00f9ng tr\u00ean c\u01a1 th\u1ec3 v\u00e0 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn h\u1edf h\u00e0m \u1ebfch, d\u1ecb t\u1eadt tim, suy gi\u1ea3m ch\u1ee9c n\u0103ng h\u1ec7 mi\u1ec5n d\u1ecbch, nhi\u1ec5m tr\u00f9ng tai ho\u1eb7c m\u1ea5t th\u00ednh l\u1ef1c, co gi\u1eadt, t\u1ef1 k\u1ef7, c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 h\u00e0nh vi v\u00e0 c\u1ea3m x\u00fac, c\u00f9ng c\u00e1c t\u00ecnh tr\u1ea1ng kh\u00e1c \u1ea3nh h\u01b0\u1edfng \u0111\u00e1ng k\u1ec3 \u0111\u1ebfn s\u1ee9c kh\u1ecfe v\u00e0 ch\u1ea5t l\u01b0\u1ee3ng cu\u1ed9c s\u1ed1ng c\u1ee7a tr\u1ebb.<\/p>\n

Tr\u1ebb em m\u1eafc h\u1ed9i ch\u1ee9ng 22q11.2DS b\u1ecb thi\u1ebfu m\u1ed9t \u0111o\u1ea1n nh\u1ecf tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u1ee9 22, t\u1ea1i m\u1ed9t v\u1ecb tr\u00ed \u1edf gi\u1eefa nhi\u1ec5m s\u1eafc th\u1ec3 \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 q11.2. R\u1ed1i lo\u1ea1n ph\u1ee9c t\u1ea1p n\u00e0y \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn m\u1ed7i tr\u1ebb theo nh\u1eefng c\u00e1ch kh\u00e1c nhau, t\u1eeb c\u00e1c tri\u1ec7u ch\u1ee9ng nh\u1eb9 \u0111\u1ebfn c\u00e1c v\u1ea5n \u0111\u1ec1 s\u1ee9c kh\u1ecfe nghi\u00eam tr\u1ecdng. \u1ede tu\u1ed5i v\u1ecb th\u00e0nh ni\u00ean v\u00e0 tr\u01b0\u1edfng th\u00e0nh, th\u00e1ch th\u1ee9c ch\u1ee7 y\u1ebfu l\u00e0 s\u1ee9c kh\u1ecfe n\u00e3o b\u1ed9 - lo l\u1eafng x\u00e3 h\u1ed9i, kh\u00f3 kh\u0103n trong h\u1ecdc t\u1eadp trong l\u1edbp h\u1ecdc, v\u00e0 \u0111\u00f4i khi l\u00e0 c\u00e1c r\u1ed1i lo\u1ea1n t\u00e2m th\u1ea7n nghi\u00eam tr\u1ecdng h\u01a1n.<\/p>\n

M\u1eb7c d\u00f9 hi\u1ec7n t\u1ea1i v\u1eabn ch\u01b0a c\u00f3 c\u00e1ch ch\u1eefa kh\u1ecfi, h\u1ea7u h\u1ebft tr\u1ebb em m\u1eafc h\u1ed9i ch\u1ee9ng 22q11.2DS \u0111\u1ec1u c\u00f3 th\u1ec3 s\u1ed1ng l\u00e2u, kh\u1ecfe m\u1ea1nh v\u00e0 n\u0103ng \u0111\u1ed9ng n\u1ebfu \u0111\u01b0\u1ee3c can thi\u1ec7p s\u1edbm v\u00e0 hi\u1ec7u qu\u1ea3 t\u1eeb c\u00e1c chuy\u00ean gia nh\u01b0 b\u00e1c s\u0129 tim m\u1ea1ch, b\u00e1c s\u0129 ph\u1eabu thu\u1eadt th\u1ea9m m\u1ef9, b\u00e1c s\u0129 mi\u1ec5n d\u1ecbch h\u1ecdc, b\u00e1c s\u0129 th\u1ea7n kinh, b\u00e1c s\u0129 tr\u1ecb li\u1ec7u ng\u00f4n ng\u1eef v\u00e0 v\u1eadt l\u00fd tr\u1ecb li\u1ec7u, v\u00e0 c\u00e1c chuy\u00ean gia v\u1ec1 h\u00e0nh vi c\u00f9ng nhau h\u1ee3p t\u00e1c \u0111\u1ec3 cung c\u1ea5p d\u1ecbch v\u1ee5 ch\u0103m s\u00f3c to\u00e0n di\u1ec7n.<\/p>\n

V\u00e0 hi\u1ec7n nay, nh\u1edd s\u1ef1 h\u1ed7 tr\u1ee3 t\u1eeb thi\u1ec7n, c\u00e1c b\u00e1c s\u0129 v\u00e0 nh\u00e0 khoa h\u1ecdc t\u1ea1i Tr\u01b0\u1eddng Y Stanford v\u00e0 B\u1ec7nh vi\u1ec7n Nhi Lucile Packard Stanford \u0111ang c\u00f3 nh\u1eefng kh\u00e1m ph\u00e1 \u0111\u1ed9t ph\u00e1 trong vi\u1ec7c t\u00ecm hi\u1ec3u c\u01a1 ch\u1ebf ti\u1ec1m \u1ea9n c\u1ee7a c\u0103n b\u1ec7nh n\u00e0y v\u00e0 c\u1ea3i thi\u1ec7n ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb c\u00e1c tri\u1ec7u ch\u1ee9ng kh\u00e1c nhau c\u1ee7a n\u00f3.<\/p>\n

C\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u m\u1edf kh\u00f3a manh m\u1ed1i trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n t\u1ebf b\u00e0o n\u00e3o<\/h3>\n

Candice Uytengsu Hamilton, m\u1ed9t ng\u01b0\u1eddi \u1ee7ng h\u1ed9 l\u00e2u n\u0103m c\u1ee7a B\u1ec7nh vi\u1ec7n Nhi Packard, hi\u1ec3u r\u00f5 nhu c\u1ea7u h\u1ed7 tr\u1ee3 c\u00e1c th\u00e1ch th\u1ee9c v\u1ec1 th\u1ea7n kinh t\u00e2m th\u1ea7n, \u0111\u1eb7c bi\u1ec7t l\u00e0 \u0111\u1ed1i v\u1edbi tr\u1ebb m\u1eafc h\u1ed9i ch\u1ee9ng 22q11.2DS. Ch\u01b0\u01a1ng tr\u00ecnh do b\u00e0 s\u00e1ng l\u1eadp - Ch\u01b0\u01a1ng tr\u00ecnh Nghi\u00ean c\u1ee9u Th\u1ea7n kinh T\u00e2m th\u1ea7n Uytengsu-Hamilton 22q11, thu\u1ed9c Vi\u1ec7n Nghi\u00ean c\u1ee9u S\u1ee9c kh\u1ecfe B\u00e0 m\u1eb9 v\u00e0 Tr\u1ebb em Stanford (MCHRI) - hi\u1ec7n \u0111ang theo \u0111u\u1ed5i nh\u1eefng h\u01b0\u1edbng nghi\u00ean c\u1ee9u m\u1edbi \u0111\u1ea7y th\u00fa v\u1ecb d\u00e0nh cho tr\u1ebb m\u1eafc h\u1ed9i ch\u1ee9ng 22q11.2DS.<\/p>\n

Ch\u01b0\u01a1ng tr\u00ecnh t\u00e0i tr\u1ee3 cho nghi\u00ean c\u1ee9u nh\u1eb1m c\u1ea3i thi\u1ec7n k\u1ebft qu\u1ea3 nh\u1eadn th\u1ee9c th\u1ea7n kinh \u1edf tr\u1ebb em m\u1eafc h\u1ed9i ch\u1ee9ng 22q11.2DS, nh\u1eefng tr\u1ebb c\u00f3 nguy c\u01a1 cao m\u1eafc c\u00e1c b\u1ec7nh l\u00fd th\u1ea7n kinh nh\u01b0 lo \u00e2u, t\u1ef1 k\u1ef7, r\u1ed1i lo\u1ea1n thi\u1ebfu t\u1eadp trung v\u00e0 r\u1ed1i lo\u1ea1n h\u00e0nh vi v\u00e0 h\u1ecdc t\u1eadp. H\u1ed9i ch\u1ee9ng 22q11.2DS l\u00e0 nguy c\u01a1 di truy\u1ec1n \u0111\u01a1n l\u1ebb m\u1ea1nh nh\u1ea5t g\u00e2y ra b\u1ec7nh t\u00e2m th\u1ea7n ph\u00e2n li\u1ec7t v\u00e0 c\u00e1c r\u1ed1i lo\u1ea1n lo\u1ea1n th\u1ea7n kh\u00e1c, khi\u1ebfn c\u00f4ng vi\u1ec7c n\u00e0y c\u00e0ng tr\u1edf n\u00ean c\u1ea5p b\u00e1ch h\u01a1n.<\/p>\n

M\u1ed9t l\u0129nh v\u1ef1c nghi\u00ean c\u1ee9u \u0111\u1ea7y h\u1ee9a h\u1eb9n bao g\u1ed3m m\u1ed9t nghi\u00ean c\u1ee9u do Ti\u1ebfn s\u0129 Anca Pasca, Ph\u00f3 Gi\u00e1o s\u01b0 Nhi khoa chuy\u00ean ng\u00e0nh Y h\u1ecdc S\u01a1 sinh v\u00e0 Ph\u00e1t tri\u1ec3n t\u1ea1i Tr\u01b0\u1eddng Y Stanford, d\u1eabn \u0111\u1ea7u. Pasca v\u00e0 c\u00e1c c\u1ed9ng s\u1ef1 \u0111ang nghi\u00ean c\u1ee9u c\u00e1c t\u1ebf b\u00e0o n\u00e3o \u0111ang ph\u00e1t tri\u1ec3n mang \u0111\u1ed9t bi\u1ebfn m\u1ea5t \u0111o\u1ea1n 22q11.2. "Ch\u00fang t\u00f4i t\u1eadp trung v\u00e0o ch\u1ee9c n\u0103ng v\u00e0 s\u1ed1 l\u01b0\u1ee3ng ty th\u1ec3 hi\u1ec7n di\u1ec7n trong giai \u0111o\u1ea1n \u0111\u1ea7u ph\u00e1t tri\u1ec3n c\u1ee7a n\u00e3o b\u1ed9", Pasca n\u00f3i. "Ch\u00fang t\u00f4i mu\u1ed1n t\u00ecm hi\u1ec3u xem ch\u1ee9c n\u0103ng c\u1ee7a ty th\u1ec3 c\u00f3 b\u1ecb \u1ea3nh h\u01b0\u1edfng hay kh\u00f4ng, b\u1ecb \u1ea3nh h\u01b0\u1edfng nh\u01b0 th\u1ebf n\u00e0o v\u00e0 b\u1ecb \u1ea3nh h\u01b0\u1edfng \u1edf giai \u0111o\u1ea1n n\u00e0o trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n c\u1ee7a n\u00e3o b\u1ed9."<\/p>\n

Cho \u0111\u1ebfn nay, nghi\u00ean c\u1ee9u c\u1ee7a h\u1ecd \u0111\u00e3 ph\u00e1t hi\u1ec7n b\u1eb1ng ch\u1ee9ng cho th\u1ea5y ch\u1ee9c n\u0103ng t\u1ebf b\u00e0o th\u1ea7n kinh v\u00e0 ty th\u1ec3 b\u1ecb \u1ea3nh h\u01b0\u1edfng ngay t\u1eeb tam c\u00e1 nguy\u1ec7t \u0111\u1ea7u ti\u00ean c\u1ee7a thai k\u1ef3. "M\u1ee5c ti\u00eau c\u1ee7a ch\u00fang t\u00f4i l\u00e0 t\u00ecm ra c\u00e1c d\u1ea5u hi\u1ec7u cho ph\u00e9p x\u00e1c \u0111\u1ecbnh t\u00ecnh tr\u1ea1ng m\u1ea5t \u0111o\u1ea1n 22q11.2 s\u1edbm trong thai k\u1ef3 v\u00e0 sau \u0111\u00f3 can thi\u1ec7p", Pasca n\u00f3i. Can thi\u1ec7p c\u00f3 th\u1ec3 \u0111\u01a1n gi\u1ea3n ch\u1ec9 l\u00e0 d\u00f9ng thu\u1ed1c ho\u1eb7c th\u1ef1c ph\u1ea9m b\u1ed5 sung cho ng\u01b0\u1eddi m\u1eb9 \u0111\u1ec3 gi\u00fap ng\u0103n ng\u1eeba s\u1ef1 ph\u00e1t tri\u1ec3n b\u1ea5t th\u01b0\u1eddng c\u1ee7a n\u00e3o b\u1ed9 v\u00e0 gi\u1ea3m nguy c\u01a1 m\u1eafc c\u00e1c b\u1ec7nh l\u00fd t\u00e2m th\u1ea7n sau n\u00e0y.<\/p>\n

Hy v\u1ecdng cho tr\u1ebb em c\u00f3 h\u1ec7 mi\u1ec5n d\u1ecbch suy y\u1ebfu<\/h3>\n

Hamilton v\u00e0 gia \u0111\u00ecnh b\u00e0 c\u0169ng \u1ee7ng h\u1ed9 nghi\u00ean c\u1ee9u ti\u00ean phong v\u1ec1 ch\u1ee9c n\u0103ng mi\u1ec5n d\u1ecbch \u1edf tr\u1ebb em m\u1eafc c\u0103n b\u1ec7nh n\u00e0y th\u00f4ng qua Li\u00ean \u0111o\u00e0n H\u1ed9i ch\u1ee9ng m\u1ea5t \u0111o\u1ea1n 22q11.2, \u0111\u01b0\u1ee3c th\u00e0nh l\u1eadp n\u0103m 2016 t\u1ea1i Trung t\u00e2m Y h\u1ecdc Ch\u1eefa tr\u1ecb v\u00e0 X\u00e1c \u0111\u1ecbnh c\u1ee7a Stanford.<\/p>\n

C\u00f4ng tr\u00ecnh \u0111ang \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n \u1edf \u0111\u00e2y c\u00f3 th\u1ec3 c\u1ee9u s\u1ed1ng nhi\u1ec1u ng\u01b0\u1eddi. "Nhi\u1ec1u b\u1ec7nh nh\u00e2n b\u1ecb suy gi\u1ea3m h\u1ec7 mi\u1ec5n d\u1ecbch do tuy\u1ebfn \u1ee9c kh\u00f4ng ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng", Ti\u1ebfn s\u0129, B\u00e1c s\u0129 Katja Weinacht, ph\u00f3 gi\u00e1o s\u01b0 v\u1ec1 gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c nhi khoa v\u00e0 y h\u1ecdc t\u00e1i t\u1ea1o t\u1ea1i Tr\u01b0\u1eddng Y, \u0111\u1ed3ng th\u1eddi l\u00e0 tr\u01b0\u1edfng nh\u00f3m d\u1ef1 \u00e1n c\u1ee7a li\u00ean minh, cho bi\u1ebft.<\/p>\n

"C\u00e1c \u0111\u1eb7c \u0111i\u1ec3m v\u1eadt l\u00fd c\u1ee7a khi\u1ebfm khuy\u1ebft mi\u1ec5n d\u1ecbch \u1edf 22q11.2DS r\u1ea5t \u0111a d\u1ea1ng, c\u00f3 th\u1ec3 t\u1eeb c\u00e1c d\u1ea1ng d\u1ecb \u1ee9ng nh\u1eb9 \u0111\u1ebfn t\u1ef1 mi\u1ec5n d\u1ecbch, cho \u0111\u1ebfn suy gi\u1ea3m h\u1ec7 mi\u1ec5n d\u1ecbch", Weinacht n\u00f3i. "V\u00e0 1 ho\u1eb7c 2% tr\u1ebb em m\u1eafc d\u1ea1ng 22q11.2DS n\u1eb7ng nh\u1ea5t sinh ra kh\u00f4ng c\u00f3 tuy\u1ebfn \u1ee9c", m\u1ed9t tuy\u1ebfn nh\u1ecf \u0111\u00f3ng vai tr\u00f2 quan tr\u1ecdng trong h\u1ec7 mi\u1ec5n d\u1ecbch. Nh\u1eefng tr\u1ebb n\u00e0y ho\u00e0n to\u00e0n kh\u00f4ng c\u00f3 h\u1ec7 mi\u1ec5n d\u1ecbch, khi\u1ebfn ch\u00fang ho\u00e0n to\u00e0n kh\u00f4ng th\u1ec3 ch\u1ed1ng l\u1ea1i nhi\u1ec5m tr\u00f9ng.<\/p>\n

Ph\u00f2ng th\u00ed nghi\u1ec7m c\u1ee7a Weinacht \u0111ang theo \u0111u\u1ed5i m\u1ed9t m\u1ee5c ti\u00eau t\u00e1o b\u1ea1o - mang l\u1ea1i cho nh\u1eefng \u0111\u1ee9a tr\u1ebb n\u00e0y m\u1ed9t tuy\u1ebfn \u1ee9c ho\u1ea1t \u0111\u1ed9ng b\u00ecnh th\u01b0\u1eddng v\u00e0 m\u1ed9t h\u1ec7 mi\u1ec5n d\u1ecbch kh\u1ecfe m\u1ea1nh. Nh\u00f3m c\u1ee7a b\u00e0 \u0111ang n\u1ed7 l\u1ef1c t\u00e1i t\u1ea1o c\u00e1c t\u1ebf b\u00e0o bi\u1ec3u m\u00f4 tuy\u1ebfn \u1ee9c, s\u1eed d\u1ee5ng t\u1ebf b\u00e0o g\u1ed1c \u0111a n\u0103ng c\u1ea3m \u1ee9ng t\u1eeb nh\u1eefng b\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng 22q11.2DS. Nh\u00f3m nghi\u00ean c\u1ee9u \u0111ang \u0111\u1ea1t \u0111\u01b0\u1ee3c nh\u1eefng ti\u1ebfn tri\u1ec3n \u0111\u1ea7y h\u1ee9a h\u1eb9n h\u01b0\u1edbng \u0111\u1ebfn m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb m\u1edbi ti\u1ec1m n\u0103ng - c\u1ea5y gh\u00e9p c\u00e1c m\u00f4 tuy\u1ebfn \u1ee9c t\u1ed5ng h\u1ee3p, c\u00f3 ch\u1ee9c n\u0103ng ho\u00e0n ch\u1ec9nh n\u00e0y tr\u1edf l\u1ea1i c\u01a1 th\u1ec3 b\u1ec7nh nh\u00e2n \u0111\u1ec3 t\u00e1i t\u1ea1o tuy\u1ebfn \u1ee9c, c\u00f3 kh\u1ea3 n\u0103ng s\u1ea3n xu\u1ea5t c\u00e1c t\u1ebf b\u00e0o T c\u1ea7n thi\u1ebft \u0111\u1ec3 ch\u1ed1ng l\u1ea1i nhi\u1ec5m tr\u00f9ng.<\/p>\n

Nh\u1eefng m\u00f3n qu\u00e0 th\u1ef1c s\u1ef1 lu\u00f4n \u0111\u01b0\u1ee3c trao t\u1eb7ng<\/h3>\n

"Vi\u1ec7c nghe ch\u1ea9n \u0111o\u00e1n m\u1eafc h\u1ed9i ch\u1ee9ng 22q11.2DS l\u00e0 m\u1ed9t b\u01b0\u1edbc ngo\u1eb7t thay \u0111\u1ed5i cu\u1ed9c \u0111\u1eddi c\u1ea3 gia \u0111\u00ecnh v\u00e0 b\u1ec7nh nh\u00e2n", Pasca n\u00f3i. "T\u00f4i hy v\u1ecdng ch\u00fang t\u00f4i c\u00f3 th\u1ec3 \u0111\u00f3ng g\u00f3p v\u00e0o m\u1ed9t b\u01b0\u1edbc \u0111\u1ed9t ph\u00e1, cung c\u1ea5p th\u00f4ng tin cho c\u00e1c th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng v\u00e0 th\u00fac \u0111\u1ea9y l\u0129nh v\u1ef1c nghi\u00ean c\u1ee9u n\u00e0y ti\u1ebfn tri\u1ec3n nhanh h\u01a1n r\u1ea5t nhi\u1ec1u."<\/p>\n

Nh\u1eefng \u0111\u1ed9t ph\u00e1 trong nghi\u00ean c\u1ee9u\u2014v\u00e0 t\u1ed1c \u0111\u1ed9 ch\u00fang \u0111ang di\u1ec5n ra\u2014s\u1ebd kh\u00f4ng th\u1ec3 \u0111\u1ea1t \u0111\u01b0\u1ee3c n\u1ebfu kh\u00f4ng c\u00f3 ho\u1ea1t \u0111\u1ed9ng t\u1eeb thi\u1ec7n. Pasca n\u00f3i: \u201cS\u1ef1 h\u1ed7 tr\u1ee3 c\u1ee7a c\u00e1c nh\u00e0 t\u00e0i tr\u1ee3 ch\u00ednh l\u00e0 s\u1ef1 kh\u00e1c bi\u1ec7t gi\u1eefa vi\u1ec7c nghi\u00ean c\u1ee9u n\u00e0y m\u1ea5t nhi\u1ec1u n\u0103m so v\u1edbi vi\u1ec7c ti\u1ebfn tri\u1ec3n nhanh ch\u00f3ng v\u00e0 t\u00ecm ra c\u00e2u tr\u1ea3 l\u1eddi c\u00e0ng s\u1edbm c\u00e0ng t\u1ed1t\u201d.<\/p>\n

S\u1ef1 h\u1ed7 tr\u1ee3 c\u1ee7a c\u00e1c nh\u00e0 t\u00e0i tr\u1ee3 \u0111\u00e3 \u0111\u01b0a Stanford l\u00ean v\u1ecb tr\u00ed h\u00e0ng \u0111\u1ea7u trong nghi\u00ean c\u1ee9u 22q11.2DS t\u1ea1i Hoa K\u1ef3, v\u00e0 th\u1eadm ch\u00ed tr\u00ean to\u00e0n th\u1ebf gi\u1edbi. "Nh\u1edd nh\u1eadn \u0111\u01b0\u1ee3c kho\u1ea3n t\u00e0i tr\u1ee3 n\u00e0y, m\u1ed9t s\u1ed1 ph\u00f2ng th\u00ed nghi\u1ec7m \u0111ang b\u1eaft \u0111\u1ea7u h\u1ee3p t\u00e1c, chia s\u1ebb c\u00f4ng c\u1ee5 v\u00e0 k\u1ebft qu\u1ea3 nghi\u00ean c\u1ee9u, v\u00e0 c\u00f9ng nhau gi\u1ea3i quy\u1ebft c\u00e1c v\u1ea5n \u0111\u1ec1", Weinacht n\u00f3i. "Nh\u1edd s\u1ef1 h\u1ed7 tr\u1ee3 h\u00e0o ph\u00f3ng c\u1ee7a gia \u0111\u00ecnh Uytengsu-Hamilton, nghi\u00ean c\u1ee9u li\u00ean ng\u00e0nh 22q11 t\u1ea1i Stanford v\u00e0 nhi\u1ec1u n\u01a1i kh\u00e1c \u0111ang ph\u00e1t tri\u1ec3n m\u1ea1nh m\u1ebd, v\u00e0 nh\u1eefng c\u00e2u tr\u1ea3 l\u1eddi m\u1edbi \u0111ang d\u1ea7n xu\u1ea5t hi\u1ec7n cho tr\u1ebb em v\u00e0 c\u00e1c gia \u0111\u00ecnh c\u1ea7n ch\u00fang."<\/p>\n

 <\/p>\n

\u0110\u1ec3 t\u00ecm hi\u1ec3u th\u00eam v\u1ec1 22q11.2DS, h\u00e3y \u0111\u1ecdc Ti\u1ebfn s\u0129 Sergiu Pasca \u0111ang c\u00e1ch m\u1ea1ng h\u00f3a nghi\u00ean c\u1ee9u v\u1ec1 c\u00e1c r\u1ed1i lo\u1ea1n th\u1ea7n kinh<\/em><\/a>.<\/p>","protected":false},"excerpt":{"rendered":"

Tr\u1eeb khi gia \u0111\u00ecnh b\u1ea1n b\u1ecb \u1ea3nh h\u01b0\u1edfng b\u1edfi h\u1ed9i ch\u1ee9ng m\u1ea5t \u0111o\u1ea1n 22q11.2 (22q11.2DS), b\u1ea1n c\u00f3 th\u1ec3 ch\u01b0a bao gi\u1edd nghe n\u00f3i \u0111\u1ebfn n\u00f3. \u01af\u1edbc t\u00ednh c\u1ee9 2.000 \u0111\u1ebfn 4.000 ng\u01b0\u1eddi th\u00ec c\u00f3 m\u1ed9t ng\u01b0\u1eddi m\u1eafc h\u1ed9i ch\u1ee9ng n\u00e0y...<\/p>","protected":false},"author":17,"featured_media":15262,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[164],"class_list":["post-4307","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research","health_topic-medical-complexity"],"acf":[],"yoast_head":"\nUnraveling the Mysteries of 22q11.2 Deletion Syndrome - Lucile Packard Foundation for Children's Health<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"http:\/\/lpfch.org\/vi\/impact-stories\/unraveling-the-mysteries-of-22q11-2-deletion-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"vi_VN\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Unraveling the Mysteries of 22q11.2 Deletion Syndrome\" \/>\n<meta property=\"og:description\" content=\"Unless your family is affected by 22q11.2 deletion syndrome (22q11.2DS), you may have never heard of it. 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