Cytogenetic profile of Down syndrome in Alexandria, Egypt
EMHJ-Eastern Mediterranean Health Journal. 2003; 9 (1-2): 37-44
em Inglês
| 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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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Encaminhamento e Consulta
/
Recém-Nascido
/
Idade Materna
/
Epidemiologia Molecular
/
Frequência do Gene
/
Aconselhamento Genético
/
Hospitais Universitários
/
Cariotipagem
/
Mosaicismo
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
East Mediterr Health J.
Ano de publicação:
2003
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