Heritable anthu matenda. List. The matenda ambiri ndi owopsa

Kumayambiriro kwa zaka za m'ma 21, pali zambiri kuposa 6 zikwi. Mitundu ya matenda otengera kwa makolo. Tsopano, mabungwe ambiri padziko lonse lapansi ndi kuphunzira matenda cholowa cha munthu, chomwe mndandanda ndi waukulu.

Chiwerengero wamwamuna ali zopindika zambiri majini ndi ndi zokayikitsa pakati mwana wathanzi. Ngakhale zifukwa si kuchotsa dongosolo lonse la malformations koma tikhoza kuganiza kuti mu zaka 100-200, sayansi ali kulimbana ndi nkhani zimenezi.

matenda majini ndi chiyani? Gawo

Chibadwa sayansi anayamba ulendo wake mu 1900 ndi kuphunzira. matenda majini ndi iwo amene amagwirizana ndi kuvutika mu dongosolo chibadwa cha munthu. Zolakwika kumachitika mu mbewu imodzi kapena angapo.

matenda cholowa:

1. Autosomal lalikulu.
2. Autosomal recessive.
3. Kugonana-zogwirizana.
4. matenda Chromosomal.

Mwina wa matenda a mwanayo ndi kupatuka autosomal lalikulu - 50%. Pamene autosomal recessive - 25%. Matenda, kugonana zogwirizana, ndiwo amanyamula zowonongeka X khromozomu.

matenda Nasledstvennnye

Nazi zitsanzo za matenda, monga gulu vysheozvuchennoy. Choncho, matenda wamphamvu-recessive monga:

• Marfan syndrome.
• Zodziwitsa ziwalo.
• Thalassemia.
• matenda Albright a.
• . Otosclerosis.

recessive:

• Phenylketonuria.
• Ichthyosis.
• Other.

Kugonana-zogwirizana matenda:

• Amapatsira mwana wake.
• Akulu Dystrophy.
• Farben matenda.

Komanso pa kumva chromosomal matenda otengera anthu. List of kuvutika chromosomal zotsatirazi:

• Shereshevskogo-Turner syndrome.
• Klinefelter syndrome.
• Cat ndi kulira syndrome.
• Pansi ndi matenda.

Ndi matenda polygenic monga:

• Dislocation a m'chiuno (kobadwa nako).
• Mtima zopindika.
• Akuchita misala.
• Mphanga mlomo ndipo m'kamwa.

Ambiri majini chosayenerera - syndactyly. Ie maphatikizidwe wa zala. Syndactyly - kuphwanya kwambiri chabwinobwino ndipo ankachita kudutsa opaleshoni. Komabe, zopatuka izi limodzi ndi syndromes ena aakulu kwambiri.

Kodi matenda ndi owopsa

Ena mwa matenda tazitchula amatha kusiyanitsa zoopsa kwambiri anthu matenda otengera kwa makolo. Lembani tichipeza mitundu ya anomalies, kumene chromosomal trisomy amapezeka kapena polysomes, kuti, pamene m'malo awiri DNA zimawonedwa pamaso pa 3, 4, 5 kapena kuposa. Khromozomu 1 amapezeka ndi m'malo 2. zolakwika zonsezi ndi chifukwa kuphwanya magawano selo.

The owopsa matenda otengera anthu:

• Edwards 'syndrome.
• Msana akulu amyotrophy.
• Patau syndrome.
• Canavan matenda.
• Amapatsira mwana wake.
• matenda ena.

Chifukwa cha kuyan'anila awa, mwana amakhala chaka chimodzi kapena ziwiri. Mu zina, zolakwika si yaikulu ndi mwana zimatha kukhala 7, 8 kapena 14 zaka.

syndrome pansi ndi

syndrome pansi ndi tinatengera, ngati limodzi kapena onse makolo onyamula khromozomu zosalongosoka. Komanso mwapadera, syndrome amagwirizana ndi trisomy 21 DNA (m. E. 21 khromozomu 3 m'malo 2). Ana ndi matenda Down ndi squint, ndi crease pakhosi, nthenda mawonekedwe a makutu, matenda a mtima ndi retardation maganizo. Koma moyo wa wakhanda ngozi chromosomal chosayenerera sakhoza unachitikira.

Tsopano Kafukufuku amasonyeza kuti ana 1 700-800 anabadwa ndi matenda izi. Akazi amene akufuna kukhala ndi mwana pambuyo 35 zambiri kubala mwana uyu. Mwina kwinakwake 1 375. Koma mayiyo, pa kubadwa kwa mwana reshivshayasya 45 ali Mwina 1 mpaka 30.

Akrokraniodisfalangiya

Mtundu wa anomaly cholowa - autosomal lalikulu. Chifukwa syndrome - kuphwanya khromozomu 10. Mu sayansi, matenda awa akutchedwa akrokraniodisfalangiya ngati chosavuta, vuto Apert. Yodziwika ndi mbali ya kapangidwe ka thupi, monga:

• brahikefaliya (kuyan'anila za m'lifupi ndi m'litali Chibade cha);
• inatsekeratu maphatikizidwe wa sutures Chigaza, potero anati oopsa (kuthamanga magazi mkati chigaza ndi);
• syndactyly;
• wotchuka pamphumi;
• retardation maganizo zambiri ndi maziko a chigaza kuti compresses ubongo ndi sapereka kuwuka kwa maselo mitsempha.

Masiku ano, ana ali ndi matenda Apert opaleshoni Kwalamulidwa kuonjezera chigaza kubwezeretsa magazi. A underdevelopment maganizo kuchitira ogalamutsa.

Ngati banja ali ndi mwana ndi matenda a matendawa, n'kutheka kuti mwanayo awiri adzabadwa ndi kuchimwa chomwecho, lalitali kwambiri.

Syndrome osangalala zidole komanso matenda Canavan - Van Bogart - Bertrand

Taganizirani mfundo ndi matenda amenewa. Kupeza syndrome Angelman akhoza kukhala kwinakwake mu zaka 3-7. Ana omangana, osauka chimbudzi, mavuto ndi kugwirizana kayendedwe. Ambiri a iwo squint ndi mavuto ndi minofu ya nkhope, nchifukwa chake pa nkhope zambiri kumwetulira. Movement wa mwana adamuwumiriza kwambiri. Madokotala zikuonekeratu kuti ndipite pamene mwanayo akufuna. Makolo nthawi zambiri sadziwa chimene chikuchitika ndipo makamaka zimene chikugwirizana. Patapita kanthawi, makamaka chifukwa chakuti iwo sangakhoze kuyankhula, monga kuyesa unintelligible mumble.

chifukwa kuti mwana kuwawonetsera matenda - ili ndi vuto mu 15 khromozomu. Iwo akukumana matenda ali osowa kwambiri - 1 mlandu pa kubadwa 15 zikwi ..

matenda ena - matenda Canavan - yodziwika ndi chakuti mwana ali ofooka minofu kamvekedwe, iye anali mavuto Pomeza chakudya. Matendawa amayamba ndi zotupa za chapakati mantha dongosolo. Chifukwa - imfa ya jini limodzi mu khromozomu 17. Choncho, maselo a mu ubongo mitsempha anawonongedwa ndi liwiro pang'onopang'ono.

Zizindikiro za matenda Tingaone mu zaka 3-mwezi. matenda Canavan akuwonekera motere:

1. Akulu hypotonia.
2. Macrocephaly.
3. Khunyu zingachitike m'miyezi zakubadwa.
4. Mwana sangathe kugwira mutu oongoka.
5. Patapita miyezi 3, kuchuluka bongo tendon.
6. ana ambiri ndasiya zaka 2.

Monga mukuonera, yosiyanasiyana anthu matenda otengera kwa makolo. List anapereka yekha monga chitsanzo, ali kutali wathunthu.

Tikumbukenso kuti ngati makolo anu onse ali kuphwanya mu umodzi ndi jini chomwecho, mwayi wokhala ndi mwana wodwala ndinu wamkulu, koma ngati anomalies majini osiyanasiyana, sitingathe mantha. Amadziwika kuti 60% ya milandu, kuvutika chromosomal mu mwana wosabadwayo zikubweretsa padera. Komabe 40% wa ana awa amabadwa ndi kumenyana ndi miyoyo yawo.