Abstract:
:Mental retardation affects 1-3% of the general population, and the genetic causes in many cases are unknown. Cytogenetically undetected chromosomal imbalances have been indicated as an explanation. Nowadays, due to the development of molecular cytogenetic techniques, it is possible to identify cryptic rearrangements involving the ends of chromosomes. We report a screening using chromosome-specific telomere fluorescence in-situ hybridization (FISH) probes, in a group of 30 patients with a well-characterized phenotype including mental retardation, dysmorphic features, and a normal karyotype. Among them, two subtelomeric rearrangements have been detected and characterized. One of them is a de novo deletion of 1p36, which has been previously described as a new contiguous gene syndrome. The second is an unbalanced product of a cryptic translocation involving chromosomes 1 and 13, which results in a partial 1q trisomy and partial 13q monosomy. These findings highlight, the importance of searching for cryptic subtelomeric rearrangements in non-syndromic mentally retarded patients.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Rodriguez-Revenga L,Badenas C,Sánchez A,Mallolas J,Carrió A,Pedrinaci S,Barrionuevo JL,Milà Mdoi
10.1111/j..2004.00167.xsubject
Has Abstractpub_date
2004-01-01 00:00:00pages
17-23issue
1eissn
0009-9163issn
1399-0004pii
CGE167journal_volume
65pub_type
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