![Jacobsen sindromining belgilari qanday? Jacobsen sindromining belgilari qanday?](https://i.answers-medical.com/preview/medical-health/14146689-what-are-symptoms-of-jacobsen-syndrome-j.webp)
Video: Jacobsen sindromining belgilari qanday?
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2024 Muallif: Michael Samuels | [email protected]. Oxirgi o'zgartirilgan: 2023-12-16 01:53
Yakobsen sindromi 11 -xromosomada bir nechta genlarni yo'q qilish bilan tavsiflanadigan holat. Belgilar va alomatlar ta'sirlangan odamlar orasida farq qiladi, lekin ko'pincha Parij-Trousseau kiradi sindromi (qon ketish tartibsizlik ); yuzning o'ziga xos xususiyatlari; vosita qobiliyatlari va nutqining kechikishi; va kognitiv buzilish.
Shuningdek, Jacobsen sindromiga nima sabab bo'ladi?
Yakobsen sindromi shartdir sabab bo'ldi 11-xromosomadan genetik materialning yo'qolishi bilan. Chunki bu o'chirish 11-xromosomaning uzun (q) qo'lining oxirida (terminusida) sodir bo'ladi, Yakobsen sindromi 11q terminalni o'chirish sifatida ham tanilgan tartibsizlik . Kasallikning belgilari va belgilari Yakobsen sindromi sezilarli darajada farq qiladi.
Yana bilingki, Jacobsen sindromi qanchalik keng tarqalgan? Yakobsen sindromi a nodir 11-xromosomadagi bir nechta genlarning yo'q bo'lib ketishi natijasida yuzaga keladigan tug'ma holat. Bu ba'zan qisman monosomiya 11q deb ataladi. Bu 100 000 yangi tug'ilgan chaqaloqdan 1 tasida uchraydi.
Yana savol tug'iladi: Yakobsen sindromi bo'lgan odamning umr ko'rish davomiyligi qancha?
The umr ko'rish davomiyligi bilan odamlar Yakobsen sindromi noma'lum, garchi ta'sirlangan shaxslar balog'at yoshida yashagan. The sindromi Doktor Petra nomini oldi Yakobsen , birinchi marta 1973 yilda ta'sirlangan bolani tasvirlab bergan.
Yakobsen sindromi uchun prenatal testlar bormi?
Prenatal diagnostika 11q o'chirish amniyosentez yoki chorionik villusni tanlash va sitogenetik tahlil yordamida mumkin. Yangi tug'ilgan chaqaloqlar bilan Yakobsen sindromi ovqatlantirishda qiyinchiliklar bo'lishi mumkin va naychali oziqlantirish zarur bo'lishi mumkin. Gematologik muammolarga alohida e'tibor berilishi kerak.
Tavsiya:
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Vernik ensefalopatiyasining alomatlariga quyidagilar kiradi: chalkashlik va aqliy faoliyatning yo'qolishi, bu komaga va o'limga olib kelishi mumkin. Oyoq tremoriga olib kelishi mumkin bo'lgan mushaklar muvofiqlashtirishining yo'qolishi (ataksiya). Ko'zning g'ayritabiiy harakatlari (oldinga va orqaga nistagmus harakati), ikki tomonlama ko'rish, qovoqlarning osilishi kabi ko'rish o'zgarishi
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Jacobsen sindromi - 11 -xromosomadan genetik materialning yo'qolishi natijasida yuzaga keladigan kasallik, chunki bu o'chirish 11 -xromosomaning uzun (q) qo'lining oxirida (terminalida) sodir bo'lganligi sababli, Jacobsen sindromi 11q terminal deletsiyasi buzilishi deb ham ataladi. Jakobsen sindromining belgilari va alomatlari turlicha
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