title: Constitutional chromosome abnormalities among patients referred for blood karyotype analysis: a 5-year study at the AUBMC.
abstract: We report results on 2010 cases of blood referred for constitutional karyotype analysis. Referrals were grouped into 16 different categories, of which reproductive failure represented the highest percentage (33%), followed by structural congenital abnormalities (14.17%), developmental delay (11.34%), Down syndrome (9.65%), and abnormal sexual development (8.16%), while other categories represented smaller percentages. The total rate of abnormality was 16%, and the highest abnormality rates were among the clinically-recognizable chromosomal syndromes, while lower percentages were detected among less specific referrals. However, abnormality rates were generally different from the typical reported rates, probably due to the inclusion of cases not requiring chromosome analysis or the failure to recognize specific chromosomal syndromes. Other identified problems included lack of proper phenotypic description and difficulty in obtaining familial follow-up for proper diagnosis and genetic counseling.
authors.affiliation: Dept of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-236, Beirut, Lebanon.
authors.forename: R
authors.initials: R
authors.lastname: Mahfouz
authors.forename: G
authors.initials: G
authors.lastname: al-Oreibi
authors.forename: N
authors.initials: N
authors.lastname: Darwiche
authors.forename: S
authors.initials: S
authors.lastname: el-Khechen
authors.forename: L
authors.initials: L
authors.lastname: Zahed
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000453:epidemiology* / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D014424:Turner Syndrome / Q000235:genetics