Cytogenetic profile of Down syndrome in Alexandria, Egypt
AbstractDuring 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
Mokhtar, M.M., Abdel Aziz, A.M., Nazmy, N.A. & Mahrous, H.S. (2003). Cytogenetic profile of Down syndrome in Alexandria, Egypt. EMHJ - Eastern Mediterranean Health Journal, 9 (1-2), 37-44, 2003 http://www.who.int/iris/handle/10665/119241
JournalEMHJ - Eastern Mediterranean Health Journal, 9 (1-2), 37-44, 2003
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