Fragile X syndrome: ke eng, litšoaneleho le kalafo

Litaba

• Lintlha tse ka sehloohong tsa lefu lena
• Mokhoa oa ho hlahloba o etsoa joang
• Kalafo e etsoa joang

Fragile X syndrome ke lefu la lefutso le hlahang ka lebaka la phetoho ea X chromosome, e lebisang ho ho etsahala ha makhetlo a 'maloa a tatellano ea CGG.

Hobane ba na le X chromosome e le 'ngoe feela, bashanyana ba angoa haholo ke lefu lena, ba hlahisa matšoao a tšoanang le sefahleho se sephara, litsebe tse kholo, hammoho le boits'oaro bo ts'oanang le ba autism. Phetoho ena e ka etsahala le ho banana, leha ho le joalo matšoao a bonolo haholo, hobane kaha a na le li-chromosome tse peli tsa X, chromosome e tloaelehileng e lefella sekoli sa se seng.

Ho sibolloa ha lefu la X le fokolang ho thata, kaha matšoao a mangata ha a totobetse, empa haeba ho na le nalane ea lelapa, ho bohlokoa ho etsa tlhabollo ea lefutso ho bona menyetla ea lefu lena. Utloisisa hore na tlhabollo ea lefutso ke eng le hore e etsoa joang.

Lintlha tse ka sehloohong tsa lefu lena

Fragile X syndrome e khetholloa haholo ke mathata a boits'oaro le ho holofala ha kelello, haholo ho bashanyana, mme ho ka ba le mathata a ho ithuta le ho bua. Ho phaella moo, ho na le litšobotsi tse 'mele, tse kenyeletsang:

• Sefahleho se selelele;
• Litsebe tse kholo, tse hlaheletseng;
• Seledu se itsamaisang;
• Molumo o tlase oa mesifa;
• Maoto a bataletseng;
• Molomo o phahameng;
• Mokotla o le mong oa palema;
• Strabismus kapa myopia;
• Scoliosis.

Lintho tse ngata tse amanang le lefu lena li hlokomeloa feela ho tloha bocheng. Ho bashemane ho ntse ho tloaelehile ho ba le testicle e atolositsoeng, ha basali ba ka ba le mathata a ho tsoala le ho hloleha ha mahe a bomme.

Mokhoa oa ho hlahloba o etsoa joang

Ho fumanoa ha lefu la X le fokolang ho ka etsoa ka liteko tsa limolek'hule le chromosomal, ho khetholla phetoho, palo ea tatellano ea CGG le litšobotsi tsa chromosome. Hangata liteko tsena li etsoa ka sampole ea mali, mathe, moriri kapa esita le amniotic fluid, haeba batsoali ba batla ho netefatsa boteng ba lefu lena nakong ea bokhachane.

Kalafo e etsoa joang

Kalafo ea lefu le fokolang la X haholo-holo ke kalafo ea boits'oaro, kalafo ea 'mele' me, ha ho hlokahala, ho etsoa opereishene ho lokisa liphetoho 'meleng.

Batho ba nang le nalane ea lefu la X le fokolang ka lapeng ba lokela ho batla tlhabollo ea lefutso ho fumana monyetla oa ho ba le bana ba nang le lefu lena. Banna ba na le XY karyotype, 'me haeba ba amehile ba ka fetisetsa lefu lena ho barali ba bona feela, eseng ho bara ba bona, hobane lefutso le fumanoang ke bashanyana ke Y, mme sena ha se hlahise phetoho efe kapa efe e amanang le lefu lena.