Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children�??s Hospital, Egypt

Abstract

Abdel-Hady El-Gilany1, Sohier Yahia1, Mohammad A Shokeir1, Hassan A Elmier2

Background: Cytogenetic has become an indispensable tool for the diagnosis of genetic disorders, paving the way for possible treatment and management. This study aims to describe the cytogenetic profile of cases referred to a genetic unit in Egypt. Methods: This is a retrospective record-based descriptive study carried out in the Genetic Unit of Mansoura University Children’s Hospital, Mansoura, Egypt during a period of 13 years from 2003 up to 2015. The following data was abstracted from the files of 3,197 referred cases: child age at referral, sex, residence, and the results of karyotyping. Results: Most of referred cases were from Dakahlia (60.9%). Males were more encountered than females with ratio 1.1:1. The age of referral ranged from 1 day to 1,530 months with mean ± SD of 20.4 ± 5.1. Karyotyping was not done or unrecorded in 27.8% of cases. Normal Karyotyping 46XY and 46XX was recorded in 8.5% and 6.9%, respectively. Chromosomal abnormalities were found in 56.8%. The most common autosomal abnormalities were Down syndrome non-disjunction (47, XY +21–47, XX +21) 30.2% and 17.2%, respectively. Classical type of Turner syndrome (45, X) was the commonest sex chromosomal abnormalities (1.8%). Numerical abnormalities were the most frequent (53.2%). Down syndrome accounted for 48.5% (for non-disjunction and mosaicism) and 3.5% (for translocation) of chromosomal abnormalities. Conclusions: Karyotyping should be done for all cases with suspected genetic disorders. It provides the bases for clinical management and genetic counseling of parents.

https://marmaris.tours
https://getmarmaristour.com
https://dailytourmarmaris.com
https://marmaristourguide.com
https://marmaris.live
https://marmaris.world
https://marmaris.yachts