I naute hian heng symptoms te hi a nei em? Jacobsen Syndrome chungchang hi han sawi ila

I fa naupangte hmasawnna emaw, a hmel lan danah emaw inthlak danglamna emaw, harsatna emaw i hmu em? A châng chuan, Jacobsen Syndrome ang chi natna hmuh tur awm lo tak pawh hi he thil hnung lamah hian a awm thei bawk. Ngaihtuah buai suh, engkim hi awlsam takin kan vawng ang.

Jacobsen Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Jacobsen Syndrome hi kan taksaa chromosomes nena inzawm natna awm lo tak a ni. Kan genes te hi heng chromosomes ah hian a awm a. Hetiang dinhmunah hian kan chromosome 11 hmun thenkhatah hian gene engemaw zat a bo emaw, a bo emaw a ni a, a dik tak chuan heng gene te hi he chromosome kut sei (q arm) tawp atang hian a bo a ni. Chuvangin 11q terminal deletion disorder an ti bawk.

Ngaihtuah teh, chromosome 11 tlemte a awm loh chuan a nghawng genes pawh a tlahniam bawk. Tichuan a symptoms te chu a reh deuh mai thei. Mahse a tam zawk a bo chuan a symptoms a na zawk. Mi thenkhatin hetianga a then tlemte chauh an bo hian partial Jacobsen syndrome emaw partial monosomy 11q emaw an ti thin. Monosomy chu chromosome pair thenkhat a bo a nih chuan a ni.

Jacobsen Syndrome vei naupangte hian an thanlenna a tikhawtlai a , nungchang lamah harsatna an nei a , an hmel lan dan pawh a danglam hle . Naupang tam tak pawhin congenital heart defects an nei bawk . Tin, thisen chhuah natna, Paris-Trousseau syndrome an tih pawh an nei tam zawk bawk.

Tunah hian hei hi damdawi famkim a la awm lo a, dam rei hun chhung hi mi hrang hrangah a inang lo.

Jacobsen Syndrome natna lan chhuah dan chu engte nge ni?

Jacobsen Syndrome symptoms hi deletion lian tham leh awmna hmun a zirin a inang lo. Mi tam tak chuan thusawi leh motor skills tihhmasawn kawngah tihkhawtlai an tawk thin . Tin , hriatna lama harsatna leh zirlai lama harsatna dang an nei thei bawk .

Jacobsen Syndrome vei naupang tam tak pawhin nungchang lama harsatna an nei bawk . Entirnan, compulsive behavior leh attention span tawi te te. Naupang tam tak pawhin Attention-Deficit/Hyperactivity Disorder (ADHD) tih natna an vei tih hmuhchhuah a ni bawk. Hetiang dinhmun hi Autism Spectrum Disorders vei theihna a sang hle bawk .

Hmai lam chi hrang hrang

Jacobsen Syndrome vei naupangte hian hmai chi hrang hrang an nei a. Chung zingah chuan:

• Lu lian tak nei - macrocephaly
• Luruh a dik lo (trigonocephaly) avanga hmai a hrual (pointed forehead) .
• Beng te tak te, low-set
• Mit inhlat tak - hypertelorism
• Mitmeng tlahniam - ptosis
• Mit chhung lam kil khatah vun hrual awm - epicanthal folds
• Hnar zau tak bridge
• Kawngkhar hnuai lam hawia inher chhuak
• A hmui chunglam te tak te
• Undercut te tak te a ni

Thil dang pawh a awm

Thil dang engemaw zat hmuh tur a awm bawk:

• Thinlung chhiatna (congenital heart defects) a awm
• Chaw pek harsatna
• Nau piang hma leh pian hnua thanlenna tihkhawtlai
• A sei zawng tawi
• Sinus leh beng natna a awm fo thin
• Digestive system, kal leh mipat hmeichhiatna lama thil dik lo awm

Jacobsen Syndrome vei tam tak chuan thisen chhuahna natna an nei bawk a, chu chu Paris-Trousseau syndrome an ti a ni. Hei hian i fate platelet a nghawng a ni . Platelets hi cell chi khat, thisen zam tura puitu a ni. Paris-Trousseau syndrome nei hian naupang chu an dam chhungin thisen chhuah dan pangngai lo a awm thei a, awlsam takin a hliam thei bawk.

Jacobsen Syndrome hi engte nge ni?

Jacobsen Syndrome hi chromosomal natna a ni a . I hriat angin chromosomes hi kan genetic information (genes) awmna thil a ni. Heng genes te hian kan taksa a lo thanlen dan tur leh a hnathawh dan tur a hril a ni. A tlangpuiin mihring taksaah hian number nei chromosome pahnih 22 a awm a, chubakah sex chromosome pahnih a awm bawk. Chromosome tin hian kut tawi (p arm) leh kut sei (q arm) an nei a.

Mi thenkhatah chuan chromosome 11 kut sei (q) tawp lama gene engemaw zat chu a bo vek a. Chromosome 11 chanve dang chu a tlangpuiin a la awm reng a ni. Hei hi Jacobsen Syndrome thlentu a ni. Deletion size a lian poh leh symptoms a na zual thin. Deletion lian leh te a zirin he bial hian khawi hmunah pawh gene 170 atanga 340 aia tam a nei thei a ni. Hemi biala gene awmte hian kan thinlung, thluak leh hmai pianphung dik taka lo thanglian turin mawhphurtu an ni.

Hei hi dominant nge recessive?

Dominant emaw recessive emaw tih hian i nu leh pa hnen atanga i genes i hmuh dan a kawk a ni.

Mahse,A tam zawkah chuan Jacobsen Syndrome hi thlahtute atanga lo chhuak a ni lo. Chu chu nu leh pa atanga rochun a ni lo tihna a ni. A tam zawk chu embryonic development-a cell division-a random error awm vang a ni a, chu chuan chromosome hmun thenkhat a hloh phah a ni. Nu leh pate hian a veng thei lo va, a venna tur pawh a awm lo. Jacobsen Syndrome vei te hian chhungkaw history-ah he natna hi an nei lo tlangpui. Mahse, chu condition chu an fate hnenah an pass thei a ni.

A tlem hle a, Jacobsen Syndrome vei te hian nu leh pa chhinchhiahna nei lo hnen atangin he natna hi an rochun thei a ni. Hei hi nu leh pa pakhatin balanced translocation tih hming pu genetic event complex tak a neih hian a thleng thin . A awlsam zawngin, chromosome 11 a\anga a \hen leh chromosome dang \hen chu hmun inthlak danglam a ni. Hei hian genetic material a tihtlem loh avangin nu leh pate hian symptoms an lantir lo. Mahse, heng chromosomes te hi an inthlunzawm chuan naupangte hian inthlauhna an nei thei a ni.

Risk factors te chu engte nge ni?

Jacobsen Syndrome hi genetic condition a ni a, tu pawh a nghawng thei a ni. Zirchianna thenkhatah chuan hmeichhe naupangte a nghawng tlem zawk tih hmuhchhuah a ni.

Engtin nge doctor-te hian hei hi an hriat chian?

I naupai lai hian i doctor hian Jacobsen Syndrome a nei tih a hmuchhuak thei mai thei. Nau neih hmaa ultrasound scan-in ngaihtuahna a neih chuan i doctor chuan test belh leh turin a rawt thei ang. Nau neih hmaa genetic screening test hman tlanglawn tak takte chu:

• Non-invasive prenatal testing (NIPT): Hei hian i thisen sample atanga i naute DNA tlemte lak a, chromosome awm zat a danglamna a awm leh awm loh enfiah a ni.
• Chorionic villus sampling (CVS): Doctor chuan nausen atanga cell sample lak nan needle a hmang thin.
• Amniocentesis: Doctor chuan nausen pum chhunga amniotic fluid sample lak nan needle a hmang thin.

Naute a pian hnuah naute doctor chuan Jacobsen Syndrome chu genetic testing hmangin a hmu thei a ni . He genetic test-ah hian doctor chuan naute thisen sample a la a, microscope hmangin a en a. Sample chhunga chromosome awmte chu an stain a, chu chu barcode ang mai a ni. Hei hian chromosome chhe tawh, gene awm lo a zawng thei a ni. A tlangpuiin a chhe lai chu chromosome 11-ah a awm a, mahse, a chhe lai hmun dik tak hriat theih nan genetic test tam zawk neih a ngai a ni.

Test dang chu Microarray Comparative Genomic Hybridization (Array CGH) a ni.. A chang chuan chromosome-a inthlak danglamna tenau tak tak, microscope hmanga hmuh theih loh khawpa te hian Jacobsen Syndrome a thlen thei bawk. Chutah chuan doctor ten he Array CGH test hi an ti thin. Hei hian naute chromosome zawng zawngah DNA inthlak danglamna tenau tak tak a lantir a ni. DNA chu a duplicate em, a tibuai em, a bo em tih a hre thei a ni.

Jacobsen Syndrome hi engtin nge enkawl a nih?

Jacobsen Syndrome hi damdawi a la awm lo. Enkawlna hian a bik takin:

• I fate symptoms enkawl dan tur
• A hmasawnna tur milestone a thlen theih nan
• Hriselna lama harsatna awm lo turin

Naute ei harsatna nei tan chuan doctor-te chuan gastrostomy tube (G-tube) . He tube hi naute pum chhungah direct-in dahin ei tur a pe chhuak thin. Surgery fundoplication tih hian chaw kawng hnuai lama valve-a harsatna awm chu a siam tha thei a ni.

I fa hian operation dang a mamawh mai thei. Entîr nân, craniofacial problems, trigonocephaly ang chi siam ṭhat nâna surgery neih . Mit emaw mit lama harsatna emaw siam\hat nan operation pawh a ngai thei bawk. Ruh, thinlung leh thil dang chhiatna siam\hat nân pawh operation neih a ngai thei bawk.

I fa doctor chuan thinlung lam harsatna thenkhat tan damdawi thenkhat a pe thei a. Entirnan, antiarrhythmics . Hengte hi heart rhythm dik lo venna emaw siamthatna atana puitu damdawi te an ni. Diuretics pawh an pe thei bawk . Hengte hi taksa atanga tui tam lutuk paih chhuak thei damdawi an ni.

Doctor-te chuan mit dik lo a awm chuan corrective glasses, contact lens emaw, surgery emaw hman a rawt thei a ni.

Doctor-te chuan Paris-Trousseau syndrome -in a nghawng dân enkawl nân thisen emaw, platelet emaw an pe thei a ni. Tin, desmopressin tih damdawi an pe thei bawk che a, chu chuan i thisen a tikhawlo thei a ni.

I fa hian engtik lai pawhin an hmasawnna milestone a thleng ngei ang. Mahse, a hmaa inrawlh hian an theihna zawng zawng an thlen theih nan a pui thei a ni. I fa doctor chuan a hnuaia mite hi a rawt thei ang:

• Remedial zirtirna bik pek a ni
• Taksa lam enkawlna
• Thusawi hmanga enkawlna

Ka fa hian Jacobsen Syndrome a vei a nih chuan eng nge ka beisei theih ang?

Jacobsen Syndrome vei te dam rei zawng hi an natna lan chhuah dan nasat dan azirin a inang lo. Lung natna khirh tak leh thisen zam harsatna avang hian Jacobsen Syndrome vei naute 20% vel chu kum 2 an tlin hmain an thi thin.

Mahse, Jacobsen Syndrome vei naupang tam tak chu puitlin thlengin an dam chhuak tawh a ni. Hetiang dinhmun nei puitlingte hian zalenna hrang hrang neiin nun hlim tak, hlim tak an nei thei a ni.

Jacobsen Syndrome hi a veng thei ang em?

Genetic condition a nih avangin Jacobsen Syndrome hi ven theih a ni lo. Naupai emaw, naupai tum emaw i nih chuan i doctor hnenah genetic counseling chungchang zawt rawh . Genetic counselor chuan Jacobsen Syndrome vei fa neih theihna tur hlauhawmna a hriatthiam theih nan a pui thei che a ni.

I naute hian Jacobsen Syndrome a vei tih hriat chu thil hlauhawm tak a ni thei. Hlauthawng suh la, i fate natna hmuhchhuah dan tur i theih ang tawka zir turin hun hmang rawh. A theih chuan i fa dinhmun hrethiamtu doctor zawn tum ang che. I fa chu enkawlna tha ber ber a pe thei a ni.

I fate natna hmuhchhuah chu i hmachhawn theih nân, ṭanpuitu pâwlte chu en rawh . Nang dinhmun ang bawka lo awm tawh midangte chuan i fa tanpui nan i mamawh hriatna leh chakna an pe thei che a ni.

Take-Home Thuchah a ni

Jacobsen Syndrome hi a awm lo va, a buaithlak thei hle a, mahse hre reng ang che, nangmah chauh i ni lo.

• Hei hi random genetic mutation vang a ni a, nu leh pa sual vang a ni lo.
• Naupang nunphung tihchangtlun nan a hmaa hriatchhuah leh inrawlh hi a pawimawh hle.
• Doctor specialist, therapist, leh counselor-te hnen aṭangin ṭanpuina zawng rawh .
• Nu leh pa dangte nena support group neih a\anga chakna leh tawnhriat kan neih hi a hlu hle.
• Naupang tin hi kan danglam vek. I fate chu an theihna leh mamawh ang zelin hmangaihna leh dawhthei takin enkawl rawh.

Hemi chungchanga zawhna dang i neih chuan doctor nen inbiakna neih hreh suh.

` Jacobsen Syndrome, chromosome dik lo, chromosome 11, genetic disease, hmasawnna tlai, Paris-Trousseau syndrome, pianpui thinlung natna, genetic counseling