Izifo ezifuywayo zezofuzo - umgaqo unemiqathango, ngenxa yokuba eso sifo singenakwenzeka kuyo nayiphi na indawo, kwaye kwenye indawo yehlabathi ichaphazela ngokubanzi inxalenye enkulu yabemi.
Ukuxilongwa kwezifo zofuzo
Izifo ezizihlambulukileyo azivuki ngosuku lokuqala lobomi, ziyakwazi ukuzibonakalisa kuphela emva kweminyaka embalwa. Ngako oko, kubalulekile ukwenza uhlalutyo olufanelekileyo ngexesha leempawu zesifo somntu, ukufezekiswa kokubakho kokubili ngexesha lokukhulelwa nokukhutshwa komntwana. Kukho iindlela ezininzi zokuxilonga:
- Yezinto eziphilayo. Ivumela ukucacisa ubukho beqela lezifo ezinxulumene neengxaki zokuxhatshazwa kwempahla. Le ndlela ibandakanya ukuhlaziywa kwegazi lomhlaba wegazi ngenxa yezifo ze-genetic, kwakunye nokufunda okulinganayo kunye nokwenyuka kwamanye amanzi.
- Cytogenetic. Isebenza ekufumaneni izifo ezivela ngenxa yokuphazamiseka kwintlangano yama-chromosomes yeseli.
- I-molecular-cytogenetic. Iyindlela epheleleyo ngakumbi xa kuthelekiswa neyokugqibela kwaye ivumela ukuxilonga nokuba utshintsho oluncinane kwisakhiwo kunye nokulungiswa kwama-chromosomes.
- Syndromological . Iimpawu zesifo sezifo ze-genetic zivame ukuhambelana nempawu zenye, izifo ezingenasifo. Ingundoqo yale ndlela yokuxilongwa kukuba kukwahlula kwiinkalo ezipheleleyo zeempawu ezibonakalisa i-syndrome yesifo esiza kuzalwa. Oku kwenziwa ngoncedo lweeprogram ezizodwa zeekhompyutheni kunye nokuhlolwa ngokucophelela ngumfuzo.
- I-molecular-genetic. Indlela ekhoyo yanamhlanje kwaye ethembekileyo. Ikuvumela ukuba uhlolisise i-DNA yomntu kunye ne-RNA, ufumane utshintsho oluncinane, kubandakanywa nokulandelelana kwama-nucleotides. Isetyenziselwa ukuxilonga izifo ze-monogenic kunye nezinguquko.
- Uvavanyo lwe-Ultrasound:
- amalungu omzimba we-pelvic - ukuchonga izifo zenkqubo yokuzala kubasetyhini, izizathu zokungabikho komntwana;
- uphuhliso lwentlungu - ukuxilongwa kweentlungu zomntwana kunye nokuba khona kwezifo ezithile ze-chromosomal.
Unyango lwezifo zofuzo
Unyango luyenziwa ngokusebenzisa iindlela ezintathu:
- Symptomatic. Awuyikuphelisa imbangela yesifo, kodwa uyasusa iimpawu ezibuhlungu kwaye inqande ukuqhubela phambili kwesi sifo.
- Aetiological. Ichaphazela ngqo izizathu zesifo ngoncedo lweendlela zokulungisa i-gene.
- Pathogenetic. Isetyenziselwa ukutshintsha iinkqubo zomzimba kunye neyezinto eziphilayo kwi-body.
Iintlobo zezifo zofuzo
Izifo ezivela kwii-Genetic zizahlula zibe ngamaqela amathathu:
- Ukuchithwa kwe-Chromosomal.
- Izifo zeMonogenic.
- Izifo zePolengenic.
Kufuneka kuqatshelwe ukuba izifo zesifo sofuba azikho ezifweni ezizalwayo. , ngokuqhelekileyo, zivela kwimonakalo engummangaliso kwi-fetus okanye izilonda ezithathelwanayo.
Uluhlu lwezifo zofuzo
Izifo eziqhelekileyo ezizalwayo:
- hemophilia;
- ubumfama obumbala;
- Down syndrome;
- cystic fibrosis;
- spina bifida;
- Isifo seKanavan;
- i-leucodystrophy Pelitseus-Merzbacher;
- neurofibromatosis;
- Isifo sika-Angelmann;
- Isifo se-Thea-Sachs;
- Isifo sikaCharcot-Marie;
- Isifo sikaJoubert;
- I-Prader-Willi isifo;
- I-Turner syndrome;
- Isifo sikaKlinefelter;
- phenylketonuria.
Izifo ezingabonakaliyo zofuzo:
- ukungaqondi kakuhle kweCapgrass;
- isifo sesidumbu esiphilayo;
- lata;
- Isifo se-Klein-Levin;
- phambili;
- isifo seendlovu;
- ukucatshulwa okubukhali;
- micropsy;
- cicero;
- Isifo sikaStendhal;
- isifo sekhanda lokuqhuma;
- I-Roben's syndrome.
Izifo zesifo sofuzo eziqhelekileyo:
- porphyria;
- umgca weBlashko;
- i-skin syndrome;
- hypertrichosis;
- Isifo sikaGünther.