Duk wanda ya ce "trisomy" yana nufin "trisomy 21" ko Down syndrome. Duk da haka, trisomy shine rashin daidaituwa na chromosomal ko aneuploidy (rauni a cikin adadin chromosomes). Don haka yana iya shafar kowane ɗayan nau'ikan chromosomes ɗin mu guda 23. Lokacin da ya shafi nau'i-nau'i 21, muna magana game da trisomy 21, wanda ya fi kowa. Ana lura da na ƙarshe a matsakaita yayin ciki 27 daga cikin 10.000, a cewar Babban Hukumar Lafiya. Lokacin da ya shafi nau'i-nau'i 18, yana da trisomy 18. Da sauransu. Trisomy 22 yana da wuyar gaske. Mafi sau da yawa, ba shi da dorewa. Bayani tare da Dr Valérie Malan, masanin ilimin halittu a cikin Histology-Embryology-Cytogenetics sashen na Necker Hospital for Sick Children (APHP).

Trisomy 22, kamar sauran trisomies, wani ɓangare ne na dangin cututtukan ƙwayoyin cuta.

An kiyasta jikin mutum yana da tsakanin sel biliyan 10.000 zuwa 100.000. Waɗannan sel su ne ainihin rukunin abubuwa masu rai. A cikin kowane tantanin halitta, tsakiya, mai ɗauke da gadon halittarmu mai nau'i-nau'i 23 na chromosomes. Wato, gabaɗaya, chromosomes 46. Muna magana akan trisomy lokacin da ɗaya daga cikin nau'ikan ba shi da biyu, amma chromosomes uku.

"A cikin trisomy 22, mun ƙare da karyotype tare da chromosomes 47, maimakon 46, tare da kwafin 3 na chromosome 22", in ji Dokta Malan. "Wannan chromosomal anomaly yana da wuyar gaske. Kasa da lokuta 50 ne aka buga a duk duniya. "Waɗannan rashin daidaituwa na chromosomal an ce sun kasance" sunyi kama da juna "lokacin da suke cikin dukkanin kwayoyin halitta (akalla waɗanda aka bincika a cikin dakin gwaje-gwaje).

Suna "mosaic" lokacin da aka samo su kawai a wani yanki na sel. A wasu kalmomi, sel masu chromosomes 47 (ciki har da 3 chromosomes 22) suna rayuwa tare da sel masu chromosomes 46 (ciki har da 2 chromosomes 22).

“Yawancin yana ƙaruwa da yawan shekarun haihuwa. Wannan shi ne babban abin haɗari da aka sani.

"A mafi yawancin lokuta, wannan zai haifar da zubar da ciki," in ji Dokta Malan. "Rawanin chromosomal shine sanadin kusan kashi 50 cikin 22 na zubar da ciki ba tare da bata lokaci ba da ke faruwa a farkon farkon watanni uku na ciki," in ji Kiwon Lafiyar Jama'a a Faransa a shafinta na Santepubliquefrance.fr. A gaskiya ma, yawancin trisomies XNUMX suna ƙarewa a cikin zubar da ciki saboda tayin ba zai yiwu ba.

"Tsarin trisomies guda 22 kawai shine mosaic. Amma wannan trisomy yana zuwa da sakamako mai tsanani. "Rashin hankali, lahani na haihuwa, rashin lafiyar fata, da dai sauransu."

“Mafi yawan lokuta, mosaic trisomies 22 sun fi yawa ban da zubar da ciki. Wannan yana nufin cewa rashin daidaituwa na chromosomal yana cikin ɓangaren sel kawai. Mummunan cutar ya dogara da adadin ƙwayoyin cuta masu ciwon Down da kuma inda waɗannan ƙwayoyin suke. “Akwai lokuta na musamman na ciwon Down wanda aka keɓe a cikin mahaifa. A irin waɗannan lokuta, tayin ba ta da lahani saboda rashin daidaituwa ya shafi mahaifa kawai. "

"Abin da ake kira homogenous trisomy 22 ya fi wuya. Wannan yana nufin cewa rashin daidaituwa na chromosomal yana cikin dukkan sel. A cikin yanayi na musamman inda ciki ke ci gaba, rayuwa har zuwa haihuwa gajeru ne. "

Mosaic trisomy 22 na iya haifar da nakasa da yawa. Akwai babban bambancin bayyanar cututtuka daga mutum zuwa mutum.

"Yana da halin rashin ci gaba da ci gaba da haihuwa, mafi yawan lokuta mai tsanani rashin hankali, hemi-atrophy, rashin lafiyar fata, dysmorphia na fuska da ciwon zuciya", cikakkun bayanai Orphanet (on Orpha.net) , tashar tashar jiragen ruwa na cututtuka masu yawa da magungunan marayu. “An ba da rahoton raunin ji da nakasar gaɓoɓi, da kuma ciwon koda da na al’aura. "

“Yaran da abin ya shafa ana ganin su a cikin tuntuɓar kwayoyin halitta. Mafi sau da yawa ana yin ganewar asali ta hanyar yin karyotype daga biopsy na fata saboda ba a samun anomaly a cikin jini. "Trisomy 22 sau da yawa yana tare da halayen rashin daidaituwa na pigmentation. "

Babu magani ga trisomy 22. Amma kula da "multidisciplinary" yana inganta ingancin rayuwa, kuma yana ƙara tsawon rayuwa.

“Ya danganta da lalacewar da aka gano, maganin zai zama na musamman. »Masanin kwayoyin halitta, cardiologist, neurologist, likitan magana, kwararre na ENT, likitan ido, likitan fata… da sauran kwararru da yawa zasu iya shiga tsakani.

“Game da karatun, za a daidaita shi. Manufar ita ce a kafa tallafi da wuri-wuri, don haɓaka iyawar waɗannan yara gwargwadon iko. Kamar yadda yake tare da ƙaramin yaro, yaron da ke fama da ciwon Down zai kasance mai faɗakarwa idan ya sami kuzari.