Trisomy 13

Trisomy 13 (inonziwo Patau syndrome) chirwere chemagene umo munhu ane matatu makopi emagetsi kubva kuchromosome 13, pachinzvimbo chemakopi maviri akajairwa. Kazhinji, izvo zvekuwedzera zvinhu zvinogona kusungirirwa kune imwe chromosome (translocation).

Trisomy 13 inoitika apo yakawedzera DNA kubva muchromosome 13 inoonekwa mune mamwe kana ese masero emuviri.

• Trisomy 13: kuvapo kwechimwe (chetatu) chromosome 13 mumaseru ese.
• Mosaic trisomy 13: kuvapo kwechimwe chromosome 13 mune mamwe masero.
• Yakasarudzika trisomy 13: kuvapo kwechikamu cheyezve chromosome 13 mumasero.

Iyo yekuwedzera zvinhu zvinokanganisa neyakajairika budiriro.

Trisomy 13 inoitika mune imwechete kubva pavane zviuru gumi vanozvarwa. Mhosva zhinji hadzina kupfuudzwa kuburikidza nemhuri (nhaka). Pane kudaro, zviitiko zvinotungamira trisomy 13 zvinoitika mune chero urume kana zai rinoumba fetus.

Zviratidzo zvinosanganisira:

• Wakachena muromo kana mukanwa
• Maoko akakwenenzverwa (nezvigunwe zvekunze pamusoro peminwe yemukati)
• Vhara-seta maziso - maziso anogona kunyatso fusidzana pamwechete kuita rimwe
• Kupera kwemhasuru toni
• Zvimwe zvigunwe kana zvigunwe (polydactyly)
• Hernias: umbilical hernia, inguinal hernia
• Hole, kupatsanurwa, kana kupaza muiyo iris (coloboma)
• Nzeve-dzakadzika nzeve
• Urema hwekuziva, hwakakomba
• Kukanganisa kweganda (ganda risipo)
• Kufenda
• Imwe chete yemichindwe
• Skeletal (limb) kusagadzikana
• Maso madiki
• Musoro mudiki (microcephaly)
• Shaya shoma shoma (micrognathia)
• Undescended testicle (cryptorchidism)

Mucheche anogona kunge aine tsinga imwe yemubereki pakuzvarwa. Iko kunowanzo kuve nezviratidzo zvekuberekwa chirwere chemoyo, senge:

• Kuiswa zvisina kujairika kwemoyo uchienda kurudyi rwechifuva pachinzvimbo chekuruboshwe
• Atrial septal kuremara
• Patent ductus arteriosus
• Ventricular septal kuremara

Gastrointestinal x-rays kana ultrasound inogona kuratidza kutenderera kwenhengo dzemukati.

MRI kana CT scans yemusoro inogona kuratidza dambudziko nekuumbwa kwehuropi. Dambudziko rinonzi holoprosencephaly. Iko kubatana pamwechete kwemativi maviri ehuropi.

Chromosome zvidzidzo zvinoratidza trisomy 13, trisomy 13 mosaicism, kana trisomy yakasarudzika.

Iko hakuna chaiwo marapirwo etrisomy 13. Kurapa kunosiyana kubva kumwana kuenda kumwana uye zvinoenderana nezvakanangana nezviratidzo.

Mapoka ekutsigira trisomy 13 anosanganisira:

• Tsigiro Sangano reTrisomy 18, 13 uye Matambudziko Akabatana (SOFT): trisomy.org
• Tariro yeTrisomy 13 uye 18: www.hopefortrisomy13and18.org

Vanopfuura makumi mapfumbamwe muzana evana vane trisomy 13 vanofa mugore rekutanga.

Matambudziko anotanga pakarepo. Vazhinji vacheche vane trisomy 13 vane chirwere chepfungwa chepfungwa.

Zvinetso zvinogona kusanganisira:

• Kufema kunetseka kana kushomeka kwekufema (apnea)
• Matsi
• Matambudziko ekudyisa
• Kutadza kwemoyo
• Kufenda
• Matambudziko ekuona

Fonera wako mupi wehutano kana iwe uine mwana ane trisomy 13 uye iwe waronga kuita mumwe mwana. Kurairidzwa kwemajini kunogona kubatsira mhuri kunzwisisa mamiriro, njodzi yekuiwana nhaka, uye machengeterwo emunhu.

Trisomy 13 inogona kuongororwa isati yazvarwa neamniocentesis ine chromosome zvidzidzo zveiyo amniotic maseru.

Vabereki vevacheche vane trisomy 13 iyo inokonzerwa nekutamisirwa vanofanirwa kuve neijeniki yekuyedza uye kuraira. Izvi zvinogona kuvabatsira kuti vazive mikana yekuve nemumwe mwana ane chirwere ichi.

Patau chirwere

• Polydactyly - ruoko rwemucheche
• Syndactyly

Bacino CA, Lee B. Cytogenetics. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 98.

Madan-Khetarpal S, Arnold G. Matambudziko eGenetic uye mamiriro edysmorphic. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Panyama Kuongorora. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 1.