title: Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.
abstract: Chromosomal abnormalities are a major cause of mental retardation and/or multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances has mainly been done by standard karyotyping. The objective of this study was to report standard chromosome analysis and FISH screening of a series of 24 patients with MCA/MR. Structural chromosomal abnormalities were detected in 24 alterations and included 5 deletions, 2 duplications, 6 unbalanced translocations, 3 inversions, 2 insertions, 3 derivative chromosomes, 2 marker chromosomes and 1 isochromosome. We confirm that a high percentage of MCA/MR cases hitherto considered idiopathic is caused by chromosomal imbalances. We conclude that patients with MCA/MR should be routinely karyotyped.
authors.affiliation: Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
authors.forename: T
authors.initials: T
authors.lastname: Tos
authors.forename: A
authors.initials: A
authors.lastname: Karaman
authors.forename: A
authors.initials: A
authors.lastname: Aksoy
authors.forename: A
authors.initials: A
authors.lastname: Tukun
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D017384:Sequence Deletion / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics