Yala nin taamasiɲɛ ninnu bɛ den na wa? An ka kuma Jacobsen Syndrome kan

Yala i ye yɛlɛma walima gɛlɛya dɔw kɔlɔsi i denmisɛnnin ka yiriwali la walima a ɲɛda cogoya la wa? Tuma dɔw la, bana dɔ min man teli ka sɔrɔ i n’a fɔ Jacobsen Syndrome, o bɛ se ka kɛ o kɔfɛ. Aw kana aw hakili ɲagami, an bɛna fɛn bɛɛ kɛ cogo nɔgɔman na.

Jacobsen ka bana ye mun ye?

N’an y’a fɔ cogo nɔgɔman na, Jacobsen Syndrome ye bana ye min man teli ka sɔrɔ, a ni an farikolo kɔnɔ kolosinsinnanw bɛ tali kɛ ɲɔgɔn na. An ka jɛnɛya bɛ sɔrɔ o kolosinsinnanw de kan. O cogo la, jɛnɛya damadɔ bɛ tunun walima u bɛ bɔ an ka kolosinsinnan 11 yɔrɔ dɔ la. O de y’a To a bɛ Weele fana ko 11q terminal deletion disorder.

Miiri k’a filɛ, ni kolosinsinnan 11 yɔrɔ fitinin dɔ tɛ yen, o bɛ dɔ bɔ jamu hakɛ fana na min bɛ a tɔɔrɔ. O kɔ, a taamasiɲɛw bɛ se ka dɔgɔya dɔɔni. Nka ni a yɔrɔba dɔ tɛ yen, a taamasiɲɛw bɛ juguya ka tɛmɛ. Ni mɔgɔ dɔw yɔrɔ fitinin dɔrɔn de tununna o cogo la, o bɛ wele ko Jacobsen syndrome partiel walima monosomy partiel 11q. Monosomie ye ni kolosinsinnan fila yɔrɔ dɔ tɛ yen.

Jacobsen Syndrome bɛ denmisɛn minnu na , olu ka yiriwali bɛ mɛn , u ka kɛwalew bɛ ɲɔgɔn ta , ani u ɲɛda cogoya bɛ danfara bɔ . denmisɛn caman fana bɛ ni dusukunnabana bangenenw ye . A ka teli fana ka jolilabana dɔ sɔrɔ min bɛ wele ko Paris-Trousseau syndrome.

Sisan, fura dafalen tɛ o la, wa a kisi waati bɛ danfara ka bɔ mɔgɔ ni mɔgɔ cɛ.

Jacobsen Syndrome taamasiɲɛw ye jumɛnw ye?

Jacobsen Syndrome taamasiɲɛw bɛ ɲɔgɔn ta ka kɛɲɛ ni a bɔli hakɛ ni a yɔrɔ ye. mɔgɔ caman bɛ mɛnni sɔrɔ kuma ni farikoloɲɛnajɛ yiriwali la . hakiliɲagami ni kalanbaliya wɛrɛw fana bɛ se ka kɛ u la .

Jacobsen Syndrome bɛ denmisɛn caman na , olu fana ka kɛwale gɛlɛyaw bɛ u la . Misali la, kɛwale min bɛ mɔgɔ wajibiya ani ka jateminɛ kɛ waati kunkurunnin kɔnɔ. Den caman fana bɛ sɔrɔ bana dɔ la min bɛ wele ko Attention-Deficit/Hyperactivity Disorder (ADHD) . nin bana in fana bɛ tali kɛ faratiba la ka ɲɛsin autizmu banaw sɔrɔli ma .

Ɲɛda cogoya kɛrɛnkɛrɛnnenw

Jacobsen Syndrome bɛ denmisɛn minnu na, ɲɛda cogoya caman bɛ u la minnu bɛ danfara don u ni ɲɔgɔn cɛ. Olu dɔw ye:

• Kungoloba sɔrɔli - makɔrɔsifali
• Ɲɛgɛnɛsira min bɛ kɛ ka a sababu kɛ kungolodimi ye (trigonocephalie) .
• Tulo misɛnninw, minnu bɛ sigi duguma
• Ɲɛ minnu ni ɲɔgɔn cɛ ka jan - hypertelorisme
• Ɲɛkisɛw bɛ jigin - ptosis
• Fari kurulen dɔ sɔrɔli ɲɛ kɔnɔna na - epicanthal folds
• Numu bridge (bonda) min ka bon
• Da kɔnɔna minnu bɛ wuli ka taa duguma
• Sanfɛla dawolo finman dɔ
• Undercut fitinin dɔ

Fɛn wɛrɛw

Fɛn damadɔ wɛrɛw bɛ se ka ye:

• Dusukun tantanni minnu bɛ sɔrɔ bangekɔlɔsi fɛɛrɛw fɛ
• Dumuni gɛlɛyaw
• Bonya bɛ mɛn ka kɔn bange ɲɛ ani bange kɔfɛ
• A janya ka surun
• Sinkɔrɔkɛrɛdimi ni tulolabanaw ka teli
• Dumunikɛcogo, sugunɛbaralabana ani cɛya ni musoya yɔrɔw la minnu tɛ kelen ye

Jacobsen Syndrome bɛ mɔgɔ caman na fana jolilabanaw bɛ u la min bɛ wele ko Paris-Trousseau syndrome . O bɛ nɔ bila aw den ka joli segin furakisɛw la . Plaquettes ye farikolokisɛ suguya dɔ ye min bɛ joli kuruli dɛmɛ. Ni Pari-Trousseau ka bana bɛ den na, joli bɛ bɔ a la cogo la min tɛ a cogo la a ka ɲɛnamaya bɛɛ kɔnɔ, wa a bɛ se ka jogin nɔgɔya la.

Jacobsen Syndrome sababuw ye mun ye?

Jacobsen Syndrome ye farikolo yɔrɔw ka bana ye . I n’a fɔ aw b’a dɔn cogo min na, kolosinsinnanw ye fɛnw ye minnu bɛ an ka jamu kunnafoniw (jeniw) sɔrɔ. O jamuw de b’a jira an farikolo ka kan ka yiriwa ani ka baara kɛ cogo min na. A ka c’a la, kolosinsinnan nimɔrɔ fila-fila bɛ hadamaden farikolo la, ka fara cɛnimusoya kolosinsinnan fila kan. Kɔrɔɲɔgɔnma kelen-kelen bɛɛ bolo ka surun (p arm) ani bolo jan (q arm).

Mɔgɔ dɔw la, jɛnɛya damadɔ minnu bɛ kolosinsinnan 11 bolo jan (q) laban na, olu bɛ bɔ yen. A ka c’a la, kolosinsinnan 11 tilancɛ tɔ tɛ tiɲɛ. O de ye Jacobsen Syndrome sababu ye. Ni a bɔli hakɛ ka bon, a taamasiɲɛw bɛ juguya ka taa a fɛ. Ka kɛɲɛ ni deletion hakɛ ye, o mara in bɛ se ka kɛ yɔrɔ o yɔrɔ la, k’a ta 170 la ka se 340 ni kɔ ma. O mara in kɔnɔ, jɛnɛya minnu bɛ an dusukun, an kunkolo ani an ɲɛda cogoyaw yiriwa ka ɲɛ.

Yala nin bɛ fanga la wa walima a bɛ kɔsegin?

Dominant walima recessive bɛ tali kɛ i bɛ i ka jeninida sɔrɔ cogo min na i bangebagaw fɛ.

Nka,A ka ca a la, Jacobsen Syndrome tɛ sɔrɔ cɛya la. O kɔrɔ ye ko a tɛ ciyɛn sɔrɔ bangebagaw fɛ. A ka ca a la, a bɛ sɔrɔ fili dɔ la min kɛra k’a sɔrɔ a ma kɛ farikolokisɛw tilali la den ka yiriwali waati, o bɛ na ni kolosinsinnan yɔrɔ dɔ bɔnɛni ye. Bangebagaw bɛ se ka foyi kɛ walasa ka a bali, wa foyi tɛ se ka kɛ walasa ka a bali. A ka ca a la, Jacobsen Syndrome bɛ mɔgɔ minnu na, olu tɛ ni o bana ye denbaya kɔnɔ. Nka, u bɛ se ka o bana lase u denw ma.

A man teli kosɛbɛ, Jacobsen Syndrome bɛ mɔgɔ minnu na, olu bɛ se ka bana in ciyɛn ta bangebaga dɔ fɛ min taamasiɲɛ tɛ a la. o bɛ kɛ ni bangebaga ka jamu ko gɛlɛn dɔ kɛra min bɛ wele ko balansi jiginni . N’an y’a fɔ cogo nɔgɔman na, kolosinsinnan 11 yɔrɔ dɔ ni kolosinsinnan wɛrɛ yɔrɔ dɔ bɛ ɲɔgɔn falen-falen. O tɛ dɔ bɔ jamu na, o la bangebagaw tɛ bana taamasiɲɛw jira. Nka, ni o kolosinsinnanw tɛmɛna, balanbaliya bɛ se ka kɛ denmisɛnw na.

Farati minnu bɛ o la, olu ye mun ye?

Jacobsen Syndrome ye bana ye min bɛ sɔrɔ jamu fɛ, a bɛ se ka mɔgɔ bɛɛ minɛ. Sɛgɛsɛgɛli dɔw y’a jira ko a bɛ npogotigininw de minɛ ka caya dɔɔni.

Dɔgɔtɔrɔw bɛ o sɛgɛsɛgɛ cogo di?

Aw ka dɔgɔtɔrɔ bɛ se ka Jacobsen Syndrome sɛgɛsɛgɛ aw kɔnɔmaya waati. Ni jiginni ɲɛfɛ ultrasound sɛgɛsɛgɛliw ye haminanko dɔw lawuli, dɔgɔtɔrɔ bɛ se ka sɛgɛsɛgɛli wɛrɛw kɛ. Sɛgɛsɛgɛli minnu ka teli ka kɛ sani bange ka kɛ, olu ye ninnu ye:

• Sɛgɛsɛgɛli min tɛ kɛ ni jiginni ɲɛfɛ (NIPT): O ye ka den ka ADN hakɛ dɔɔni ta ka bɔ aw joli la ani ka a lajɛ ni fɛn o fɛn tɛ a kolosinsinnanw hakɛ la.
• Chorionic villus sampling (CVS): Dɔgɔtɔrɔ bɛ pikirijikɛlan kɛ ka farikolokisɛw ta ka bɔ denso kɔnɔ.
• Denso kɔnɔbara basigilen : Dɔgɔtɔrɔ bɛ pikirijikɛlan kɛ ka kɔnɔbara basigilen dɔ ta denso kɔnɔ.

Den bangenen kɔfɛ, den ka dɔgɔtɔrɔ bɛ se ka Jacobsen Syndrome sɛgɛsɛgɛ ni a ye jamu sɛgɛsɛgɛli kɛ . Nin jamu sɛgɛsɛgɛli in na, dɔgɔtɔrɔ bɛ den joli ta ka a lajɛ ni mikroskɔpu ye. U bɛ kolosinsinnanw nɔgɔ minnu bɛ sɛgɛsɛgɛli la, minnu bɛ i n’a fɔ barɔdi. O bɛ se ka kolosinsinnanw karilenw ɲini, jamu minnu tununna. A ka c’a la, yɔrɔ min karilen don, o bɛ kolosinsinnan 11. Nka, sɛgɛsɛgɛli wɛrɛw ka kan ka kɛ jamu kan walasa ka kari yɔrɔ tigitigi dɔn.

Kɔrɔbɔli wɛrɛ ye Microarray Comparative Genomic Hybridization (Array CGH) ye.. Tuma dɔw la, fɛn misɛnninw caman yeli ɲɔgɔn kɔ kolosinsinnanw na, minnu ka dɔgɔn kojugu fo u tɛ se ka ye mikroskɔpu fɛ, o bɛ se ka kɛ sababu ye ka Jacobsen Syndrome (Jakɔbsen ka bana) bila mɔgɔ la. O waati de la dɔgɔtɔrɔw bɛ nin Array CGH sɛgɛsɛgɛli in kɛ. O bɛ fɛn misɛnninw jira ADN la den ka kolosinsinnanw bɛɛ la. A bɛ se k’a dɔn ni ADN bɛ ɲɔgɔn ta, ni a tiɲɛna, walima ni a tununna.

Jacobsen Syndrome bɛ furakɛ cogo di?

Fura tɛ yen min bɛ wele ko Jacobsen Syndrome. Furakɛli bɛ sinsin kosɛbɛ ninnu kan:

• Walasa ka aw den ka bana taamasiɲɛw kunbɛn
• Walasa k’a dɛmɛ a ka se a ka yiriwali siratigɛ la
• Walasa ka kɛnɛya gɛlɛyaw bali

Den minnu ka dumuni ka gɛlɛn, dɔgɔtɔrɔw bɛ se ka kɔnɔbara basigilen (G-tube) laadi u ma . Nin tubabufura in bɛ don den kɔnɔbara la k’a ɲɛsin dumuni ma. Opereli min bɛ wele ko fundoplication , o bɛ se ka gɛlɛya dɔ latilen min bɛ dumunikɛminɛn duguma dawolo la.

A bɛ se ka kɛ ko aw den mago bɛ opereli wɛrɛw la. Misali la, opereli minnu bɛ kɛ walasa ka kunkolo ni ɲɛda gɛlɛyaw latilen, i n’a fɔ trigonocephalie . Opereli fana bɛ se ka kɛ walasa ka yeli walima ɲɛ gɛlɛyaw latilen. A bɛ se ka kɛ fana ko opereli ka kan ka kɛ walasa ka kolotugudaw, dusukun ani fiɲɛ wɛrɛw latilen.

Aw den ka dɔgɔtɔrɔ bɛ se ka fura dɔw di aw ma dusukun gɛlɛya dɔw kama. Misali la, antiarrhythmics . Olu ye furaw ye minnu bɛ dɛmɛ ka dusukun tantanni jugumanw bali walima k’u latilen. u bɛ se ka sugunɛbilenni furaw fana sɛbɛn . Olu ye furaw ye minnu bɛ dɛmɛ ka ji tɛmɛnen bɔ farikolo la.

Dɔgɔtɔrɔw bɛ se ka ɲɛkisɛw ladilan, ɲɛkisɛw, walima opereli ɲɛkisɛw la.

Dɔgɔtɔrɔw bɛ se ka joli don u la walima joli segin furakisɛw la walasa ka Pari-Trousseau ka bana nɔw furakɛ . U bɛ se ka fura dɔ fana di aw ma min bɛ wele ko desmopressine , o bɛ aw dɛmɛ ka aw joli kuru.

Siga t’a la, aw den bɛna se a ka yiriwali siratigɛ la waati dɔ la. Nka, ni u ye dɛmɛ don joona , o bɛ se k’u dɛmɛ u ka se k’u seko bɛɛ kɛ. Aw den ka dɔgɔtɔrɔ bɛ se ka ninnu fɔ:

• Kalan kɛrɛnkɛrɛnnen min bɛ kɛ ka ɲɛsin furakɛli ma
• Farikoloɲɛnajɛ furakɛli
• Kuma furakɛli

Ne bɛ se ka mun makɔnɔ ni Jacobsen Syndrome bɛ ne den na?

Jacobsen Syndrome bɛ mɔgɔ minnu na, olu si hakɛ bɛ ɲɔgɔn ta ka kɛɲɛ ni u ka bana taamasiɲɛw juguya ye. Dusukunnabana jugumanba ni joli kuru gɛlɛyaw kosɔn, Jacobsen Syndrome bɛ den minnu na, olu 20% ɲɔgɔn bɛ sa sani u ka se san 2 ma.

Nka, denmisɛn caman minnu bɛ ni Jacobsen Syndrome ye, olu ye ɲɛnamaya sɔrɔ fo ka se u balikuya ma. Nin bana in bɛ mɔgɔkɔrɔba minnu na, olu bɛ se ka ɲɛnamaya kɛ nisɔndiya la, ka ɲɛnamaya wasa ni yɛrɛmahɔrɔnya hakɛ caman ye.

Yala Jacobsen Syndrome bɛ se ka bali wa?

Ikomi a ye bana ye min bɛ sɔrɔ jamu fɛ, Jacobsen Syndrome tɛ se ka bali. Ni aw kɔnɔma don walima ni aw b’a fɛ ka kɔnɔ ta, aw bɛ dɔgɔtɔrɔ ɲininka jamu ladilikan ko la . Ladilikɛla min bɛ jamukow ɲɛnabɔ, o bɛ se k’aw dɛmɛ ka aw ka farati faamuya ni den sɔrɔli ye min bɛ ni Jacobsen Syndrome ye.

Ni aw y’a dɔn ko Jacobsen Syndrome bɛ aw den na, o bɛ se ka kɛ siranfɛn ye. Aw kana siran, nka aw bɛ waati ta ka fɛn caman dɔn aw den ka bana sɛgɛsɛgɛli kan. Ni aw bɛ se, aw bɛ aw jija ka dɔgɔtɔrɔ dɔ ɲini min bɛ aw den ka bana faamu. A bɛ se ka furakɛlicogo ɲumanw di aw den ma.

Walasa k’aw dɛmɛ ka se ka aw den ka bana sɛgɛsɛgɛli kunbɛn, aw ye dɛmɛjɛkuluw lajɛ . Mɔgɔ wɛrɛ minnu kɛra i ko kelen na, olu bɛ se ka dɔnniya ni fanga di i ma i mago bɛ min na walasa ka i den dɛmɛ.

Take-Home cikan

Jacobsen Syndrome ye bana ye min man teli ka sɔrɔ, wa a bɛ se ka gɛlɛya, nka aw hakili to a la ko aw kelen tɛ.

• O bɛ sɔrɔ jamu jiginni fɛ k’a sɔrɔ a ma kɛ cogo si la , bangebagaw ka jalaki tɛ.
• A dɔnni joona ani ka a sen don a la , o nafa ka bon kosɛbɛ walasa ka den ka ɲɛnamaya kɛcogo ɲɛ.
• Aw bɛ dɛmɛ ɲini dɔgɔtɔrɔ kɛrɛnkɛrɛnnenw fɛ, furakɛlikɛlaw ani ladilikɛlaw fɛ .
• Fanga ni dɔnniya min bɛ sɔrɔ dɛmɛjɛkuluw fɛ ni bangebaga tɔw ye, o nafa ka bon kosɛbɛ.
• Denmisɛn bɛɛ tɛ kelen ye. Aw bɛ aw den minɛ ni kanuya ni muɲuli ye ka kɛɲɛ n’a sekow n’a magow ye.

Ni ɲininkali wɛrɛw bɛ aw fɛ o ko la, aw kana siga ka kuma aw ka dɔgɔtɔrɔ fɛ.

` Jacobsen Syndrome, chromosomes abnormality, chromosome 11, bana min bɛ sɔrɔ jamu fɛ, yiriwali kɔtigɛlen, Paris-Trousseau syndrome, dusukunnabana bangenen, jamu ladilikan