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Cytogenetic profile of Down syndrome in Alexandria, Egypt

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Abstract
During 1992-2001, 673 Down syndrome patients were referred to the Department of Human Genetics in Alexandria. Regular [‎free]‎ trisomy 21 constituted 95.4% of cases; Robertsonian translocation 2.7%; and mosaicism 0.7%. In 8 cases, regular trisomy 21 was associated with structural or numerical chromosome anomalies. Translocation was parentally inherited for 33.3% of cases and maternal transmission was twice as common as paternal. Two translocated Down syndrome fetuses were diagnosed prenatally in at [‎14;21]‎ carrier mother. Mean maternal age was high in regular trisomy 21 [‎38.2 years]‎ but not in translocation [‎25.3 years]‎. There was an excess of males in all groups except the mosaic group where the male:female ratio was 0.67. Cytogenetic investigations assist in patient management and family counselling
Citation
Mokhtar, M.M., Abdel Aziz, A.M., Nazmy, N.A. & Mahrous, H.S. (‎2003)‎. Cytogenetic profile of Down syndrome in Alexandria, Egypt. http://www.who.int/iris/handle/10665/119241
Relation
EMHJ - Eastern Mediterranean Health Journal, 9 (‎1-2)‎, 37-44, 2003
Description
37-44
ISSN
1020-3397
Other Identifiers
http://applications.emro.who.int/emhj/0901_2/emhj_2003_9_1_2_37_44.pdf
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  • EMRO Journal Articles (‎EMHJ)‎
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English
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