Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients
- PMID: 22876589
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.
Similar articles
-
Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.Genet Couns. 2005;16(2):129-38. Genet Couns. 2005. PMID: 16080292
-
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.Eur J Med Genet. 2011 Jul-Aug;54(4):e425-32. doi: 10.1016/j.ejmg.2011.03.007. Epub 2011 Mar 30. Eur J Med Genet. 2011. PMID: 21457803
-
Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.BMC Med Genet. 2005 May 17;6:21. doi: 10.1186/1471-2350-6-21. BMC Med Genet. 2005. PMID: 15904506 Free PMC article.
-
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.Cytogenet Genome Res. 2006;115(3-4):225-30. doi: 10.1159/000095918. Cytogenet Genome Res. 2006. PMID: 17124404 Review.
-
Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.Am J Med Genet. 1995 Jul 31;58(1):46-9. doi: 10.1002/ajmg.1320580110. Am J Med Genet. 1995. PMID: 7573155 Review.