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العنوان
The prevalence of different genetic syndromes diagnosed by karyotyping in genetics unit of pediatric hospital, Cairo University /
الناشر
Mohammad Mahmoud Abdelhameed Ahmed ,
المؤلف
Mohammad Mahmoud Abdelhameed Ahmed
هيئة الاعداد
باحث / Mohammad Mahmoud Abdel Hameed Ahmed
مشرف / Iman Ehsan Abdel Meguid
مشرف / Hoda Mohammad Abdel Ghani
مشرف / Hend Mehawed Abd El-Latif
تاريخ النشر
2018
عدد الصفحات
112 P. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
26/6/2018
مكان الإجازة
جامعة القاهرة - كلية الطب - Pediatrics
الفهرس
Only 14 pages are availabe for public view

from 135

from 135

Abstract

Background: Cytogenetic analysis is an essential component in the diagnosis and evaluation of children with various congenital abnormalities, dysmorphicfeatures, developmental delay and / or intellectual disability.Objective: To describe the prevalence of different genetic syndromes and other diseases where chromosomal analysis help in their diagnosis and determine their correlation to mother s age ,consanguinity and presenting symptoms inEgyptian children and adolescents in Genetics unit, Pediatric hospital, Cairo University. Methods: Retrospective study includes all children who are suspected clinically to have chromosomal abnormalities in genetics clinic & asked to do karyotyping incytogenetics lab during the period fromJanuary 2013 to December 2014. Results: Of the 1072 cases 617 were females (57.5%) and 455 were males (42.5%). The prevalence of chromosomal abnormalities was 317 cases (29.6%) which is in agreement with various previous studies