I naute chromosome-ah harsatna a awm em? Aneuploidy chungchang hi a awlsam zawngin sawi ila!

Nu nih beisei mek tan chuan he hun lai hian thil ngaihtuah leh hlauhna tam tak i neih hi thil pangngai tak a ni. A bik takin i pum chhunga naupang te hriselna i ngaihtuah hian. A châng chuan doctor-te emaw, kan hnuaia mite emaw pawh hi "genetic diseases" emaw "chromosomal problems" emaw chungchang kan zawt ṭhin. Chu chu vawiin hian kan sawi dawn a, chu chu Aneuploidy tih hming pu condition a ni. A hming hi thil lian tak angin a lang thei a, mahse lungngai suh. Hemi chungchang hi awlsam takin kan sawi dawn a, i hriatthiam theih tur angin.

Chromosome te hi eng nge ni? A awlsam zawngin i hrethiam ang u.

Kan taksa chhunga cell te tak te tin hian a chhungah hian thread ball te te a nei vek tih han ngaihtuah teh. Chu chu chromosome kan tih chu a ni . Heng chromosomes chhungah hian kan DNA a awm a, chu chu a pawimawh hle. Computer-a program awm ang bawkin, he DNA hian kan taksain a lo thanlenna tur, a lo thanlen theihna tur leh engkim a tih theihna tura a mamawh instruction leh information zawng zawng a keng tel vek a ni. Heng thupekte hi kan nu leh pa hnen atangin kan dawng thin. Chuvang chuan a chang chuan kan nu angin kan lang a, a chang chuan kan pa angin kan lang a, a chang chuan a pahnih mix kan nei bawk.

Nang leh kei hian kan nu hnen atangin chromosome 23 kan hmu vek a, kan pa hnen atangin chromosome 23 kan hmu vek a, a vaiin chromosome 46 kan nei a ni . Chungte chu kan cell chhungah pahnih pahnih inrem a ni a; chu chu pair 23 tihna a ni. Chung zinga pair 22 chu mi zawng zawng tan a inang vek a ni. Pair hnuhnung ber hian hmeichhia nge mipa kan nih tih a hril a ni. A tlangpuiin hmeichhia a nih chuan XX angin an dah a, mipa a nih chuan XY angin an dah bawk.

Kan taksa cell te hi thlak danglam zel a ni. Cell hlui an thih chuan cell thar a lo piang ta a ni. Hei hi cell inthen darh kan ti a ni . A kalphung awlsam tak a ni a, computer-a ‘copy’ leh ‘paste’ tih ang chi hi a ni. Chutianga cell inthen darh chuan kan sawi chromosome te chu a inang chiah chiah a, cell thar pahnih lo piangah chuan an lut ta a ni. Hei hi kan dam chhung zawngin a thleng thin. Tin, naute thar siamna atana mamawh cell bulpui, chu chu nu egg leh pa sperm te hian he cell inthenna hi a thleng bawk. Mahse, a chang chuan he chromosome insem danah hian tihsual tenau leh tlakchhamna te a awm thei. Chromosome zat dik tak chu a insem tur chu a inang lo mai thei. Chutiang a nih chuan cell thenkhat chuan chromosome zat dik tak chu an hmu lo. Chu chu (Turner syndrome) emaw (Down syndrome) ang chi genetic conditions awm chhan ber a ni.

Chuti a nih chuan, hei hi eng nge ni (aneuploidy)?

A awlsam zawngin sawi ila, aneuploidy chu kan cell-a chromosome awm zat dik tak awm lohna a ni a, chu chu 46 a ni a, a tam zawkah chuan he dinhmun hi nu egg emaw, pa sperm emaw a lo awm huna tihsual tlemte avanga lo awm a ni. Tichuan, naute a lo than chhoh tan chuan chromosome awm zat inthlak danglamna atang hian a intan thin.

Hemi kawngah hian thil pahnih thleng thei a awm a, chungte chu:

1. 1. A rilru a hah lutuk chuan a rilru a buai em em a.Trisomy: Chumi awmzia chu chromosome pakhat chu extra copy a awm tihna a ni a, chu chuan chromosome zawng zawng 47 a siam tihna a ni.

2. Monosomy: Hei hian chromosome pakhat a bo tihna a ni a, a vaiin chromosome 45 a awm tihna a ni.

Hetiang chromosome abnormality neia naute a pai hian naupai chu hlawhtling takin a tawp lo fo thin. Nau pai theihna a sang hle . Dik tak chuan zirchianna hrang hrangah chuan he natna (aneuploidy) hi first trimester chhunga nau pai zawng zawng zinga a chanve vel a ni tih hmuhchhuah a ni.

Aneuploidy chi hrang hrangte chu engte nge ni?

Kan sawi tawh ang khan aneuploidy hi chi hnih a awm a, chungte chu Trisomy leh Monosomy te an ni.

Trisomy a ni

Trisomy tih awmzia chu naute hian chromosome extra a nei tihna a ni. Hei hian chromosome zawng zawng chu 47 a tling ta a, hei vang hian thil pawimawh tak tak engemaw zat a awm thei a ni:

• Down syndrome: Hei hi kan hriat tam ber chu a ni. Heta thil thleng chu chromosome 21 copy extra a awm tihna a ni a, chu chu chromosome 21 copy pathum a awm tihna a ni a, hei hi (Trisomy 21) an ti bawk.
• (Trisomy 18) Trisomy 18: Hei hi chromosome 18 copy extra awmna hmun a ni a, a hmaa Edwards syndrome tia hriat thin, he natna hian naute he natna neia piangte hriselna lama harsatna tam tak a thlen thei a ni.
• (Trisomy 13) Trisomy 13: Hei hi chromosome 13 copy extra awmna hmun a ni a, a hmain Patau syndrome tia hriat a ni a, hei hi hriselna lama harsatna lian tak thlentu a ni bawk.

Monosomy tih a ni

Monosomy tih awmzia chu naute hian chromosome pakhat tlem zawk a dawng tihna a ni. Hei hian chromosome zawng zawng 45 a siam chhuak a ni. Chumi atanga lo chhuak dinhmun lian ber berte chu:

• Turner syndrome: Hei hi sex chromosome disorder a ni. A tlangpuiin naupang hmeichhia hian X chromosome pahnih (XX) a nei a. Turner syndrome vei naupang hmeichhia chuan X chromosome pakhat chauh a nei a. Hei hi (Monosomy X) an ti a. Y chromosome a awm loh avangin heng naute hi hmeichhe naupang anga piang an ni.

Hetiang dinhmun hian tute nge a nghawng nasa ber?

Dik tak chuan, aneuploidy an tih natna hian naute eng pawh a nghawng thei a ni . Random takin a thleng thin. Mahse, zirchianna ṭhenkhatah chuan nu kum upat deuh deuh chuan a hlauhawmna chu a pung deuh niin an sawi . Entirnan, nu kum 20 mi chuan chromosomal abnormality nei naute neih theihna chance 1,480 zinga pakhat a nei a, nu kum 40 mi chuan chance 65 zinga pakhat a nei thung. Mahse, hei hian nu naupang zawkte chu hlauhawmah an awm lo tihna erawh a ni lo. Turner syndrome-ah chuan kum hian hmun pawimawh tak a chang lo niin an sawi.

Chuvangin, naute neih i ngaihtuah a nih chuan doctor nen inbia la, genetic counseling la rawh.A neih a pawimawh hle. Tichuan heng dinhmunte hi i hre lawk thei a, i hlauhawmnate chu i hrethiam thei a, test tulte pawh i sawi thei bawk.

Aneuploidy hi engtiang chiahin nge a awm? Nau pai chungchangah hian link a awm em?

Aneuploidy leh chromosomal abnormalities hi kan ngaihtuah aiin a tam zawk. Naupai 150 zinga pakhat vel ah an awm thin . Aneuploidy hian nau pai hmaa 50% vel a thlen bawk . Hei hian a tam zawkah chuan nature hian naupai chu chhunzawm zel ai chuan chromosomal abnormality hmangin a titawp ang tihna a ni.

Engtin nge aneuploidy hian naupai hi a nghawng theih?

Chromosome extra neih (Trisomy) emaw, chromosome tlakchham (Monosomy) emaw hian naupai hi kawng hrang hrangin a nghawng thei a ni.

Trisomy lam hawi:

Trisomy vei naupai tam zawk hi nau pai chhuahnaah a tawp thin . Zirna atanga a lan dan chuan nau pai zawng zawng zinga 35% vel chu trisomy vang a ni. Mahse, a tlem hle a, naute 1% vel chu trisomy condition neiin an piang thin. Chung zingah chuan nausen (Trisomy 21) emaw (Down syndrome) vei an tam ber. Naute chu chutiang trisomy condition neia piang a nih chuan naute dam rei zawng chu naute pangngai aiin a hniam zawk thei a ni. Hei hi nau piang laia harsatna hrang hrang leh pianpui chhiatna thleng thin vang a ni.

Monosomy hmanga zir chianna: 1.1.

Monosomy condition hi trisomies aiin a tlem zawk. Hriat chinah chuan Monosomy X, a nih loh leh Turner syndrome chauh hian nau piang nung a thlen thin. Turner syndrome hi X chromosome pakhat chauh a awm chuan a lo awm thin. Y chromosome a awm loh avangin heng naute hi hmeichhe naupang anga piang an ni.

Aneuploidy natna lan chhuah dan chu engte nge ni?

Aneuploidy symptom langsar ber chu nau pai hi a ni . Hei hi naupai chu mid-term-a a tawp hun a ni. Hei hi first trimester chhungin a thleng tlangpui a, mahse a hnuah a thleng thei bawk. Nau pai loh chhinchhiahnate chu:

• Pum hnuai lam leh hnungzang natna nei.
• Thlasik lai ang chi cramps.
• Tlemte, thisen chhuak tam tak pawh a ni mai thei.

Pawimawh: Heng symptoms te hi i nei nia i hriat chuan doctor pan vat tur a ni.

Mahse, nau pai 50% vel chu aneuploidy ang chi genetic cause vang ni mahse, naute hi a chang chuan he natna hi neiin an piang thei a ni. Chutiang naute chu piansualna an nei tam zawk a , chubakah hmasawnna tlai leh rilru lama harsatna an nei tam zawk bawk .

Engvangin nge hetiang (aneuploidy) hi a lo awm? A chhante chu engte nge ni?

Aneuploidy hi genetic defect a ni. A tam zawkah chuan he chhiatna hi nu egg leh pa sperm an inzawm hma, chu chu egg leh sperm siam chhuah lai a ni. Cell inthen dan chungchang kan sawi tawh a. Egg leh sperm hi cell inthen darh dan bik meiosis an tih atanga siam a ni . Hetah hian chromosome 46 nei cell chu vawi hnih a inthen a, chromosome 23 ve ve nei cell pali (egg emaw sperm emaw) a siam a ni. Aneuploidy hi he meiosis lai hian chromosome pahnih an inthen tha lo a, egg emaw sperm thenkhatah chromosome tam lutuk emaw, tlem lutuk emaw a awm bawk.

Hei hi random leh beisei loh taka thleng thin a ni . Office-a printer-in a chang chuan hna a thawk tawh lo nghal mai emaw, lehkha phek pakhatin a hmun atanga a print chhuah ang bawkin, kan DNA pawhin hetiang thil tihsual hi a nei thei bawk. Engtikah nge a thlen dawn tih leh engtin nge a thlen dawn tih tumahin an sawi thei lo. Hemi chungchang hi hriat belh i duh chuan Doctor nen inbia a, genetic counseling lak a tha.

Naupai laiin aneuploidy hmuhchhuah theihna test a awm em?

Ni e, naupai lai hian naute hian aneuploidy an tih natna a nei em tih hriat theihna tur test engemaw zat a awm. Chung zinga ṭhenkhat chu screening test a ni a, ṭhenkhat chu diagnostic test a ni.

• Noninvasive Prenatal Testing (NIPT) / Noninvasive Prenatal Screening (NIPS): Hei hi thisen test awlsam tak a ni a, naupai kar 10 hnuah tih theih a ni. Nu thisen sample a la a, a chhunga naute DNA chu a zawng a, Down syndrome, Trisomy 18, leh Trisomy 13 ang chi natna a neih theih dan tur a enfiah a, hei hian a hlauhawmna chauh a hrilh che a, a chhan dik tak a hrilh lo.
• Chorionic Villus Sampling (CVS): Hei hi naupai atanga kar 10 leh kar 13 inkar test a ni. Hetah hian doctor chuan nausen atanga cell sample tlemte tak tak a la a, a genetic conditions a test thin. Hei hian aneuploidy ang chi condition te chu dik takin a hmu thei a ni. Mahse, nau pai theihna chance tlemte chauh a keng tel thung.
• Amniocentesis: Hei hi naupai atanga kar 15 leh kar 20 inkar test a ni tlangpui. Hetah hian doctor chuan naute chhehvel amniotic fluid sample tlemte a la a, a chhunga naute cell awmte chu a enfiah thin. Hei hian aneuploidy leh nau piangsual dang thenkhat te pawh dik takin a hmu thei bawk. Nau pai theihna a tlem hle bawk.

Heng test chungchangah hian thutlukna i siam hmain doctor nen uluk taka inbiakna neih a pawimawh hle a, a thatna leh that lohna i hriat chian a pawimawh hle.

Aneuploidy hi engtin nge enkawl a nih?

Dik tak chuan he natna (Aneuploidy) hi enkawlna bik a awm lo .. Aneuploidy condition tam tak hi naute tan chuan thihna thlentu a ni a, a nih loh leh harsatna lian tak tak, rilru lama harsatna leh taksa lama harsatna nei te a thlen thin. Chuvangin, enkawlna hian naupang tinte symptom leh complication te enkawl a tum a ni. Chu chu naupang tinte tana siam rem leh hrisel taka awmtir thei tur enkawlna ruahmanna siam tihna a ni.

Naupai i nih chuan (aneuploidy) vangin nau pai theihna a awm. Nau pai hi hmeichhia tan chuan taksa leh rilru lamah pawh thil harsa tak a ni. Hetiang a lo thlen chuan damna hun i pek a ngai a ni.

Chhungkaw din i ngaihtuah a nih chuan doctor nen genetic testing leh naupai hlawhtling theihna tihpun dan tur sawipui rawh.

Aneuploidy vei theihna tihtlem nan kan tih theih tur a awm em?

Aneuploidy hi random genetic defect a nih avangin a pumpelh kim thei lo . Mahse, naute piansualna a neih theihna tur tihtlem nan thil engemaw zat kan tih theih a awm a:

• Ei leh in inthlau tak ei: Naupai lai hian chaw tha ei hi a pawimawh hle.
• Naupai tum hmain genetic test neih hmasa phawt ang che: A bik takin i chhungkuaa mi pakhatin genetic disease a neih chuan, emaw, kum 35 aia upa i nih chuan.
• Meizial zu leh zu in loh vek tur a ni.
• I doctor-in nau neih hmaa vitamin a rawt dik tak ei: a bik takin folic acid awmna vitamin te.

Aneuploidy vanga nau pai i neih chuan nau i pai leh thei ang em?

Ni e, a tam zawkah chuan a theih . Aneuploidy avanga nau pai leh theihna chance a tlem hle. A chhan chu kan sawi tawh ang khan hei hi random occurrence a ni. Hmeichhe tam tak chuan aneuploidy vangin nau an pai hnuah naute hrisel tak tak an nei tawh a ni. Mahse, naupai leh tum hmain doctor nen i hlauhawmna leh test tih theih turte sawipui hmasak phawt a tha.

Fa aneuploidy vei i neih chuan eng nge i beisei theih ang?

Vawi tam tak chu natna (aneuploidy) hmuhchhuah a nih chuan nu leh pate chuan nau pai an hmachhawn a ngai thin. Hei hi thil lungchhiatthlak tak a ni. Mahse hriatthiam tur pawimawh tak chu hei hi naupai laia lo awm genetic defect vang a ni a, naupai laia nu thil tih vang a ni lo. I doctor chuan nau pai hnua taksa leh rilru lamah a dam leh theih nan a pui ang che.

Naupang chu aneuploidy neia piang a nih chuan, chu naupang chuan a dam chhûngin a ṭhanlenna tlai , a sei tawi, pianpui chhiatna, leh rilru lama harsatna a tawk thei a ni. Chuvang chuan Doctor hnenah naupang hriselna enfiah fo a, a tul anga enkawlna leh puihna pek hi a pawimawh hle. Aneuploidy hi damdawi kimchang a awm lo.

Engtikah nge doctor i hmuh ang?

• Nau pai chhuahna symptoms i nei a.Symptoms (pum na, hnungzang na, thisen chhuak) i neih chuan doctor pan vat tur a ni. Damdawi in pan a tul leh tul loh a hrilh ang che.
• Nau pai hnuah heng symptoms te hi i neih chuan doctor pan nghal rawh, infection chhinchhiahna a nih theih avangin:
• Khawsik leh khawsik i neih chuan (Chills, Fever) .
• Thisen a chhuak nasa a nih chuan (Heavy bleeding) .
• Natna leh lungawi lohna i neih fo chuan

I doctor zawh tur zawhna pawimawh tak takte chu engte nge ni?

Hemi chungchang hi doctor i biak hian heng zawhnate hi zawh loh theihnghilh suh ang che:

• Genetic disease nei fa neih hlauhawmna ka nei em?
• Aneuploidy vanga nau pai hnuah ka taksa hi a hrisel tawk em, naute dang ka nei leh thei ang em?
• Nau neih theihna tur hlauhawm ka nih chuan nau neih hmaa screening neih belh i rawt em?

(Aneuploidy) leh (Polyploidy) hi eng nge an danglamna?

Aneuploidy leh polyploidy hi naute DNA-a chromosome awm zat inthlak danglam avanga lo awm, genetic condition an ni vek a. Mahse a danglamna tlem a awm.

• Aneuploidy chu chromosome pakhat extra (e.g. 47) emaw, chromosome pakhat tlem zawk (e.g. 45) emaw awmna a ni. A tlem berah chuan chromosome tam tak a awm lo/a belhchhah thei.
• Polyploidy chu chromosome set extra (i.e. chromosome 23) neihna a ni. Entirnan, i nu hnen atanga chromosome 23 leh i pa hnen atanga chromosome 46 (i.e. number pangngai aia let hnih) i rochun chuan Triploidy an ti a. Hengte hi a tlem hle a, thihna thlen thei thil a ni fo bawk.

A tawp berah chuan thil hriat reng tur (Take-Home Message) .

Aneuploidy hi i hriat chuan a hlauhawm thei hle. Mahse, hre reng ang che, random occurrence a ni fo thin, through no fault of your own. Kan computer hman chu a thawk tawh lo thut ang bawkin, kan cell-te a inthen darh pawhin, a chang chuan tihsual tenau te a thleng thei a ni.

A pawimawh ber chu nangmah chauh i ni lo tih hriat hi a ni. Hemi chungchang sawipui thei, thurawn pe thei che leh tanpui theitu doctor, chhungte leh thiante an awm. Naupai i tum a nih chuan, emaw, naupai tawh i nih chuan, he thu hi i doctor nen zalen takin sawipui rawh. Genetic counseling la rawh. Hei hian aneuploidy ang chi condition te, i risk te, leh test tih theih te hriatthiamna a pe ang che. Tin, nau pai ang chi thil lungchhiatthlak tak i hmachhawn a ngai a nih chuan, chuta tang chuan taksa leh rilru lama i dam leh theihna tura i mamawh puihna chu dawng hreh suh.

Engkim a kal tluang ngei kan beisei!

` Chromosomes, aneuploidy, genes, naupai, nau pai, Down syndrome, Turner syndrome, trisomy, monosomy, genetic testing, nau piangsual, DNA, cell inthen darh