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dc.contributorMokhtar, M.M.EN
dc.contributorAbdel Aziz, A.M.EN
dc.contributorNazmy, N.A.EN
dc.contributorMahrous, H.S.EN
dc.date.accessioned2014-06-17T11:21:09Z
dc.date.available2014-06-17T11:21:09Z
dc.date.issued2003EN
dc.identifier.issn1020-3397EN
dc.identifier.otherhttp://applications.emro.who.int/emhj/0901_2/emhj_2003_9_1_2_37_44.pdfEN
dc.identifier.urihttp://www.who.int/iris/handle/10665/119241
dc.description37-44EN
dc.description.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 counsellingEN
dc.language.isoenEN
dc.subjectEpidemiology, MolecularEN
dc.subjectGene FrequencyEN
dc.subjectGenetic CounselingEN
dc.subjectHospitals, UniversityEN
dc.subjectInfant, NewbornEN
dc.subjectKaryotypingEN
dc.subjectMaternal AgeEN
dc.subjectMosaicismEN
dc.subjectReferral and ConsultationEN
dc.subject.meshCytogeneticsEN
dc.titleCytogenetic profile of Down syndrome in Alexandria, EgyptEN
dc.relation.ispartofjournalEMHJ - Eastern Mediterranean Health Journal, 9 (‎1-2)‎, 37-44, 2003


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