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

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier.

Abstract
Aim: This study aims to describe the cytogenetic profile of cases referred to a genetic unit in Egypt.
Methods: This is a retrospective hospital 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 collected for 3197 referred cases: child age at referral, sex, residence and karyotyping results.
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 356 months with a median of 8 months. Karyotyping was not done or unrecorded in 27.8% of cases. In cases with karyotypes, normal Karyotyping (46XY and 46XX) was recorded in 11.8% and 9.5%; respectively. Chromosomal abnormalities were found in 78.7%. The most common autosomal abnormalities were Down syndrome (DS) non-disjunction (47, XY +21-47, XX +21) 41.9% - 23.9%; respectively. Classical type of Turner syndrome (45, X O) was the commonest sex chromosomal abnormalities (2.0%).Numerical abnormalities were the most (93.6% of total abnormalities). DS accounted for 85.4% (for non-disjunction and mosaicism) and 6.2% (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.

Key words: Cytogenetic karyotyping chromosomal anomalies Down syndrome


 
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Pubmed Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier. Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.. Am J Prev Med Public Health. 2018; 2(1): 8-12. doi:10.5455/ajpmph.284191


Web Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier. Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.. http://www.ajpmph.com/?mno=284191 [Access: December 12, 2018]. doi:10.5455/ajpmph.284191


AMA (American Medical Association) Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier. Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.. Am J Prev Med Public Health. 2018; 2(1): 8-12. doi:10.5455/ajpmph.284191



Vancouver/ICMJE Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier. Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.. Am J Prev Med Public Health. (2018), [cited December 12, 2018]; 2(1): 8-12. doi:10.5455/ajpmph.284191



Harvard Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier (2018) Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.. Am J Prev Med Public Health, 2 (1), 8-12. doi:10.5455/ajpmph.284191



Turabian Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier. 2018. Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.. American Journal of Preventive Medicine and Public Health, 2 (1), 8-12. doi:10.5455/ajpmph.284191



Chicago Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier. "Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.." American Journal of Preventive Medicine and Public Health 2 (2018), 8-12. doi:10.5455/ajpmph.284191



MLA (The Modern Language Association) Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier. "Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.." American Journal of Preventive Medicine and Public Health 2.1 (2018), 8-12. Print. doi:10.5455/ajpmph.284191



APA (American Psychological Association) Style

Abdel-Hady El-Gilany, Sohier Yahia, Mohammad Shokeir, Hassan Elmier (2018) Cytogenetic profile of children with suspected genetic disorders referred to the Genetic Unit of Mansoura University Children's Hospital, Egypt.. American Journal of Preventive Medicine and Public Health, 2 (1), 8-12. doi:10.5455/ajpmph.284191





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