Cytogenetic profile of Down syndrome in Alexandria, Egypt
EMHJ-Eastern Mediterranean Health Journal. 2003; 9 (1-2): 37-44
in English
| IMEMR
| ID: emr-158133
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 malefemale ratio was 0.67. Cytogenetic investigations assist in patient management and family counselling
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Referral and Consultation
/
Infant, Newborn
/
Maternal Age
/
Molecular Epidemiology
/
Gene Frequency
/
Genetic Counseling
/
Hospitals, University
/
Karyotyping
/
Mosaicism
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
East Mediterr Health J.
Year:
2003
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