So wo ba no wɔ saa sɛnkyerɛnne ahorow yi? Momma yɛnka Jacobsen Syndrome ho asɛm

So woahu nsakrae anaa ɔhaw bi wɔ wo ba kumaa no nkɔso anaa n’anim hwɛbea mu? Ɛtɔ mmere bi a, tebea bi a wɔntaa nhu te sɛ Jacobsen Syndrome betumi adi eyi akyi. Mma ɛnhaw wo, yɛbɛma biribiara ayɛ mmerɛw.

Dɛn ne Jacobsen Yare no?

Sɛ yɛbɛka no tiawa a, Jacobsen Syndrome yɛ tebea a ɛntaa nsi a ɛne nkwaboaa a ɛwɔ yɛn nipadua mu no wɔ abusuabɔ. Yɛn awosu mu nkwaadɔm wɔ saa chromosomes yi so. Wɔ tebea yi mu no, awosu mu nkwaadɔm pii nni yɛn nkwaboaa 11 no fã bi mu anaasɛ wɔapopa. Ɛno nti na wɔsan frɛ no 11q terminal deletion disorder no.

Fa no sɛ, sɛ chromosome 11 no fã ketewaa bi nni hɔ a, awosu mu nkwaadɔm dodow a ɛka no nso so tew. Afei ebia sɛnkyerɛnne ahorow no so bɛtew kakra. Nanso sɛ ɔfã kɛse bi nni hɔ a, yare no ho sɛnkyerɛnne no mu yɛ den kɛse. Sɛ nnipa binom fã ketewaa bi pɛ na ɛyera wɔ saa kwan yi so a, wɔfrɛ no partial Jacobsen syndrome anaa partial monosomy 11q. Monosomy yɛ bere a chromosome abien bi fã bi nni hɔ.

Mmofra a wɔwɔ Jacobsen Syndrome no nkɔso kyɛ , wɔn nneyɛe ho nsɛm , na wɔn anim yɛ soronko . Mmofra pii nso wɔ komayare a wɔde awo wɔn . Ɛda adi nso sɛ wobenya mogyatɔw yare bi a wɔfrɛ no Paris-Trousseau syndrome.

Mprempren wonni eyi ano aduru a edi mũ, na ɛsono bere a wɔde tra ase wɔ onipa biara mu.

Dɛn ne Jacobsen Syndrome ho sɛnkyerɛnne ahorow?

Jacobsen Syndrome ho sɛnkyerɛnne gu ahorow gyina kɛse ne beae a wɔpopa no so. Nnipa pii kyɛ wɔ kasa ne nipadua mu ahoɔden a wɔde yɛ adwuma no mu nkɔso mu . Ebia wɔn adwene mu yɛ wɔn naa ne adesua mu dɛmdi afoforo nso .

Mmofra pii a wɔwɔ Jacobsen Syndrome nso wɔ suban ho haw ahorow . Sɛ nhwɛso no, nneyɛe a ɛhyɛ obi ne bere tiaa a wɔde si biribi so. Wohu sɛ mmofra pii nso wɔ tebea bi a wɔfrɛ no Attention-Deficit/Hyperactivity Disorder (ADHD) . Saa tebea yi nso ne asiane a ɛkɔ soro sɛ obi benya Autism Spectrum Disorders wɔ abusuabɔ .

Anim ho nneɛma pɔtee bi

Mmofra a wɔwɔ Jacobsen Syndrome no wɔ anim afã horow pii a ɛda nsow. Eyinom bi ne:

• Wo ti kese - macrocephaly
• Moma so a ɛyɛ nsensanee esiane ti nhwi a ɛnyɛ ne kwan so nti (trigonocephaly) .
• Aso nketewa a ɛba fam
• Aniwa a ɛwɔ akyirikyiri - hypertelorism
• Aniwa a ɛrehwe ase - ptosis
• Wora a woabobɔw wɔ aniwa no mu ntwea so - epicanthal folds
• Wide hwene bridge
• Ano ntwea a ɛdannan kɔ fam
• Anofafa a ɛwɔ soro a ɛyɛ tratraa
• Undercut ketewaa bi

Nneɛma afoforo a ɛwom

Yebetumi ahu nneɛma afoforo pii:

• Koma mu dɛmdi a wonya fi awo mu
• Aduan a wɔde ma ho nsɛnnennen
• Onyin a ɛkyɛ ansa na wɔawo no ne bere a wɔawo no akyi
• Ɔyɛ tiaa
• Sinus ne aso mu yare a ɛtaa ba
• Nneɛma a ɛnteɛ wɔ aduan mu, asaabo, ne ɔbarima ne ɔbea nna mu

Nnipa pii a wɔwɔ Jacobsen Syndrome nso wɔ mogyatɔw yare bi a wɔfrɛ no Paris-Trousseau syndrome . Eyi ka wo ba no mogya nkwammoaa a ɛma mogya tu no . Nkwammoaa a ɛma mogya tu yɛ nkwammoaa bi a ɛboa ma mogya tu. Wɔ Paris-Trousseau yare no mu no, abofra no wɔ asiane mu sɛ mogya bɛtɔ no wɔ ɔkwan a ɛnteɛ so wɔ wɔn nkwa nna nyinaa mu, na ebetumi apirapira ntɛmntɛm.

Dɛn na ɛde Jacobsen Syndrome ba?

Jacobsen Syndrome yɛ nkwaadɔm mu yare . Sɛnea wunim no, chromosomes ne nneɛma a yɛn awosu mu nsɛm (awosu mu nkwaadɔm) wom. Saa awosu mu nkwaadɔm yi na ɛkyerɛ sɛnea ɛsɛ sɛ yɛn nipadua nyin na ɛyɛ adwuma. Mpɛn pii no, nkwaboaa a wɔde nɔma ahyɛ mu abien abien na ɛwɔ onipa nipadua mu, na wɔde ɔbarima ne ɔbea nna mu nkwaadɔm biako ka ho. Chromosome biara wɔ nsa tiaa (p basa) ne basa tenten (q nsa).

Wɔ nnipa binom mu no, wɔpopa awosu mu nkwaadɔm pii a ɛwɔ chromosome 11 basa tenten (q) no awiei. Mpɛn pii no, chromosome 11 no fã a aka no yɛ nea enni dɛm. Eyi na ɛde Jacobsen Syndrome ba. Dodow a deletion no kɛse yɛ kɛse no, dodow no ara na sɛnkyerɛnne ahorow no mu yɛ den. Ɛdenam sɛnea wɔpopa no kɛse so no, awosu mu nkwaadɔm a efi 170 kosi bɛboro 340 betumi akura ɔmantam no mu. Awosu mu nkwaadɔm a ɛwɔ ɔmantam yi mu no na ɛma yɛn koma, amemene, ne yɛn anim afã horow nyin yiye.

So eyi di tumi anaasɛ ɛkɔ akyiri?

Dominant anaa recessive kyerɛ sɛnea wunya w’awosu fi w’awofo hɔ.

Nanso,Mpɛn pii no, ɛnyɛ awosu mu Jacobsen Syndrome. Ɛne sɛ, ɛnyɛ nea wonya fi awofo no hɔ. Mpɛn pii no, mfomso a ɛba kwa wɔ nkwammoaa mu mpaapaemu mu bere a awotwaa no nyin, na ɛma nkwaboaa no fã bi hwere na ɛde ba. Biribiara nni hɔ a awofo no betumi ayɛ de asiw ano, na biribiara nni hɔ a wobetumi ayɛ de asiw ano. Mpɛn pii no, nnipa a wɔwɔ Jacobsen Syndrome no nni abusua abakɔsɛm a ɛfa tebea no ho. Nanso, wobetumi de tebea no akɔma wɔn mma.

Ɛntaa mma koraa sɛ nnipa a wɔwɔ Jacobsen Syndrome betumi anya tebea no afi ɔwofo a onni sɛnkyerɛnne biara hɔ. Eyi ba bere a ɔwofo bi wɔ awosu mu adeyɛ bi a ɛyɛ den a wɔfrɛ no balanced translocation . Sɛ yɛbɛka no tiawa a, chromosome 11 no fã bi ne chromosome foforo fã bi sesa mmeae. Eyi mma awosu mu nneɛma no so ntew, enti awofo no nkyerɛ yare no ho sɛnkyerɛnne. Nanso, sɛ wɔde saa chromosomes yi kɔ a, ebia mmofra no bɛkari pɛ.

Dɛn ne nneɛma a ɛde asiane ba?

Jacobsen Syndrome yɛ awosu mu yare a ebetumi aka obiara. Nhwehwɛmu bi ada no adi sɛ ɛka mmeawa kakra.

Ɔkwan bɛn so na nnuruyɛfo hu eyi?

Ebia wo duruyɛfo betumi ahu Jacobsen Syndrome bere a wo nyinsɛn no. Sɛ ultrasound scan a wɔyɛ ansa na wɔawo no ma ɛhaw adwene bi a, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu foforo. Awosu mu nhwehwɛmu a wɔtaa yɛ ansa na wɔawo no bi ne:

• - ‍ (NIPT - Non-invasive prenatal testing): DNA ‍ , ‍ ‍ .
• Chorionic villus sampling (CVS): Oduruyɛfo no de ade di dwuma de fa nkwammoaa bi fi awotwaa no mu.
• Amniocentesis: Oduruyɛfo no de ade di dwuma de fa nsu a ɛwɔ awotwaa no mu no bi.

Sɛ wɔwo akokoaa no wie a, akokoaa no duruyɛfo betumi ahu Jacobsen Syndrome denam awosu mu nhwehwɛmu a ɔbɛyɛ so . Wɔ awosu mu nhwehwɛmu yi mu no, oduruyɛfo no fa akokoaa no mogya bi na ɔde afiri a wɔde hwɛ nneɛma nketenkete hwɛ. Wɔde nkekae gu chromosomes a ɛwɔ nhwɛsode no mu a ɛte sɛ barcode no so. Eyi betumi ahwehwɛ chromosomes a abubu, awosu mu nkwaadɔm a ɛyera. Mpɛn pii no, ɔfã a abubu no wɔ chromosome 11. Nanso, ɛho hia sɛ wɔyɛ awosu mu nhwehwɛmu pii na ama wɔahu beae pɔtee a abubu no.

Sɔhwɛ foforo ne Microarray Comparative Genomic Hybridization (Array CGH) a wɔde toto nneɛma ho.. Ɛtɔ mmere bi a nsakrae nketenkete paa a ɛba chromosomes mu, a ɛyɛ ketewaa dodo sɛ wobetumi ahu wɔ microscope mu no betumi ama Jacobsen Syndrome aba. Ɛno ne bere a nnuruyɛfo yɛ saa Array CGH sɔhwɛ yi. Eyi kyerɛ nsakrae nketenkete paa a ɛba DNA mu wɔ akokoaa no nkwaadɔm nyinaa mu. Ebetumi ahu sɛ ebia DNA no ayɛ abien, asɛe, anaasɛ ayera anaa.

Ɔkwan bɛn so na wɔsa Jacobsen Syndrome?

Aduru biara nni hɔ a wɔde sa Jacobsen Syndrome. Ayaresa no twe adwene si:

• Sɛnea ɛbɛyɛ a wubedi wo ba no yare no ho sɛnkyerɛnne ahorow ho dwuma
• Sɛnea ɛbɛyɛ a ɔbɛboa no ma wadu ne nkɔso mu nsɛntitiriw ho
• Sɛnea ɛbɛyɛ a wɔbɛkwati akwahosan ho nsɛnnennen

Wɔ nkokoaa a ɛyɛ den sɛ wobedidi fam no, nnuruyɛfo betumi akamfo akyerɛ sɛ wɔmfa gastrostomy tube (G-tube) . Wɔde saa afiri yi hyɛ akokoaa no yafunu mu tẽẽ de aduan kɔma. Oprehyɛn a wɔfrɛ no fundoplication betumi asiesie ɔhaw bi a ɛwɔ valve a ɛwɔ aduan no ase no ho.

Ebia wo ba no behia oprehyɛn afoforo. Sɛ nhwɛso no, oprehyɛn a wɔyɛ de siesie ti nhwi ne anim haw ahorow te sɛ trigonocephaly . Ebia ɛho behia nso sɛ wɔyɛ oprehyɛn de siesie aniwa anaa aniwa mu haw ahorow. Ebia ɛho behia nso sɛ wɔyɛ oprehyɛn de siesie nnompe, koma, ne sintɔ afoforo.

Ebia wo ba no duruyɛfo bɛkyerɛw nnuru bi ama koma mu nsɛnnennen bi. Sɛ nhwɛso no, antiarrhythmics . Eyinom yɛ nnuru a ɛboa ma wosiw koma a ɛnyɛ ne kwan so ano anaasɛ wosiesie. Ebia wɔbɛkyerɛw nnuru a wɔde yi nsu nso ama obi . Eyinom yɛ nnuru a ɛboa ma woyi nsu a ɛboro so fi nipadua no mu.

Ebia nnuruyɛfo bɛkamfo ahwehwɛ a wɔde siesie, ahwehwɛ a wɔde hwɛ ade, anaa oprehyɛn akyerɛ sɛ wɔnyɛ aniwa a ɛnyɛ ne kwan so.

Nnuruyɛfo betumi ama mogya anaa mogya nkwammoaa a wɔde ma de asa Paris-Trousseau yare no nkɛntɛnso . Ebia wɔbɛma wo aduru bi a wɔfrɛ no desmopressin , a ɛboa ma wo mogya tu no nso.

Akyinnye biara nni ho sɛ wo ba no bedu wɔn nkɔso mu nsɛntitiriw ho wɔ bere bi mu. Nanso, sɛ wɔde wɔn ho gye mu ntɛm a , ebetumi aboa wɔn ma wɔayɛ nea wobetumi biara. Ebia wo ba no duruyɛfo bɛkamfo nea edidi so yi akyerɛ:

• Nkyerɛkyerɛ titiriw a wɔde siesie nneɛma
• Nipadua mu ayaresa
• Ɔkasa mu ayaresa

Sɛ me ba no wɔ Jacobsen Syndrome a, dɛn na metumi ahwɛ kwan?

Nnipa a wɔwɔ Jacobsen Syndrome nkwa nna gu ahorow gyina sɛnea wɔn yare no ho sɛnkyerɛnne no mu yɛ den so. Esiane komayare a emu yɛ den ne mogya a ɛtwetwe ho haw nti, nkokoaa a wɔwɔ Jacobsen Syndrome no mu bɛyɛ 20% wuwu ansa na wɔadi mfe 2.

Nanso, mmofra pii a wɔwɔ Jacobsen Syndrome no atra ase akosi wɔn mpanyin afe so. Mpanyimfo a wɔwɔ saa tebea yi betumi atra ase anigye, a abotɔyam wom a ɛsono ahofadi.

So wobetumi asiw Jacobsen Syndrome ano?

Esiane sɛ ɛyɛ awosu mu tebea nti, wontumi nsiw Jacobsen Syndrome ano. Sɛ woanyinsɛn anaasɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn a, bisa wo duruyɛfo awosu mu afotu ho asɛm . Awosu ho ɔfotufo betumi aboa wo ma woate asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ Jacobsen Syndrome no ase.

Sɛ wuhu sɛ wo ba no wɔ Jacobsen Syndrome a, ebetumi ayɛ hu. Mma wo ho nnpopo, na mmom gye bere sua nea wubetumi ahu wɔ wo ba no yare no ho. Sɛ ɛbɛyɛ yiye a, bɔ mmɔden hwehwɛ oduruyɛfo a ɔte wo ba no tebea ase. Obetumi ama wo ba no ayaresa a eye sen biara.

Nea ɛbɛyɛ na woaboa wo ma woagyina wo ba no yare no ano no, hwɛ akuw a wɔboa wo mu . Afoforo a wɔakɔ tebea koro no ara mu sɛ wo no betumi ama wo nimdeɛ ne ahoɔden a wuhia na wode aboa wo ba no.

Nkrasɛm a Wɔde Kɔ Fie

Jacobsen Syndrome yɛ tebea a ɛntaa nsi na ebetumi ayɛ den, nanso kae sɛ ɛnyɛ wo nkutoo na wowɔ hɔ.

• Eyi fi awosu mu nsakrae a ɛba kwa , na ɛnyɛ awofo no mfomso.
• Sɛ wobehu abofra no ntɛm na wɔde wɔn ho ahyɛ mu no ho hia yiye na ama abofra no asetra atu mpɔn.
• Hwehwɛ mmoa fi nnuruyɛfo atitiriw, ayaresa ho animdefo, ne afotufo hɔ .
• Ahoɔden ne osuahu a wonya fi mmoa akuw a wɔne awofo afoforo yɛ mu no som bo kɛse.
• Ɛsono abofra biara. Fa ɔdɔ ne boasetɔ di wo ba no ho dwuma sɛnea ne tumi ne n’ahiade te.

Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho a, ntwentwɛn wo nan ase sɛ wo ne wo duruyɛfo bɛkasa.

` Jacobsen Syndrome, chromosome a ɛnteɛ, chromosome 11, awosu mu yare, nkɔso a ɛkyɛ, Paris-Trousseau syndrome, awo mu komayare, awosu mu afotu