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.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Bogdanowicz J,Pawłowska B,Ilnicka A,Gawlik-Zawiślak S,Jóźwiak A,Sobiczewska B,Zdzienicka E,Korniszewski L,Zaremba Jdoi
10.1007/BF03195731subject
Has Abstractpub_date
2010-01-01 00:00:00pages
215-7issue
2eissn
1234-1983issn
2190-3883pii
566journal_volume
51pub_type
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