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1.
EMHJ-Eastern Mediterranean Health Journal. 2003; 9 (1-2): 37-44
em Inglês | IMEMR | ID: emr-158133

RESUMO

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


Assuntos
Adulto , Feminino , Humanos , Masculino , Epidemiologia Molecular , Frequência do Gene , Aconselhamento Genético , Hospitais Universitários , Recém-Nascido , Cariotipagem , Idade Materna , Mosaicismo/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos
2.
EMHJ-Eastern Mediterranean Health Journal. 1999; 5 (2): 299-306
em Inglês | IMEMR | ID: emr-156618

RESUMO

The study aimed to evaluate the role of nucleolus organizer region [NOR] heteromorphism as an etiological factor for parental nondisjunction in Down syndrome by comparing 25 patients affected by Down syndrome, and their parents with a control group of 80 non-affected Egyptians. All parents had normal karyotypes. The average modal number per parent of Ag-positive NORs was significantly higher in parents than controls. A significant difference in the size of the double-NOR variants [dNORs] was found. The mean maternal and paternal ages were significantly lower, with a significant increase in spontaneous abortions, for dNOR[+] couples compared with dNOR[-] couples


Assuntos
Adulto , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Aborto Espontâneo/genética , Estudos de Casos e Controles , Síndrome de Down/genética , Recém-Nascido , Cariotipagem , Idade Materna , Não Disjunção Genética , Linhagem , Gravidez
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