Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features |
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Authors: | J Bogdanowicz B Pawłowska A Ilnicka S Gawlik-Zawiślak A Jóźwiak B Sobiczewska E Zdzienicka L Korniszewski J Zaremba |
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Institution: | 1. Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957, Warsaw, Poland 2. Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland
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Abstract: | Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability
and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic
methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions,
an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving
chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements
in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects
were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients),
while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also
found in the patient’s mother and grandfather. |
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