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Cytogenetic profile of Down syndrome in Alexandria, Egypt / Mokhtar, M.M.;Abdel Aziz, A.M.;Nazmy, N.A.;Mahrous, H.S.

Tác giả : Mokhtar, M.M.;Abdel Aziz, A.M.;Nazmy, N.A.;Mahrous, H.S.

Năm xuất bản : 2003

Chủ đề : 1. Cytogenetics. 2. Epidemiology, Molecular. 3. Gene Frequency. 4. Genetic Counseling. 5. Hospitals, University. 6. Infant, Newborn. 7. Karyotyping. 8. Maternal Age. 9. Mosaicism. 10. Referral and Consultation.

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37-44 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
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https://iris.who.int/handle/10665/119241