Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

• Published in: Journal of applied genetics Vol. 51; no. 2; pp. 215 - 217
• Main Authors: Bogdanowicz, J., Pawłowska, B., Ilnicka, A., Gawlik-Zawiślak, S., Jóźwiak, A., Sobiczewska, B., Zdzienicka, E., Korniszewski, L., Zaremba, J.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.01.2010
• Subjects: Abnormalities, Multiple - genetics; Animal Genetics and Genomics; Biomedical and Life Sciences; Child; Child, Preschool; Chromosomes, Human, Pair 2; Chromosomes, Human, Pair 7; Female; Gene Rearrangement; Human Genetics; Humans; In Situ Hybridization, Fluorescence; Infant; Intellectual Disability - genetics; Life Sciences; Male; Microbial Genetics and Genomics; Plant Genetics and Genomics; Poland; Polymorphism, Genetic; Sequence Deletion; Short Communication; Telomere - genetics; Translocation, Genetic; Young Adult; Poland; fluorescent in situ hybridization; subtelomeric rearrangement; deletion; comparative genomic hybridization; dysmorphic features
• ISSN: 1234-1983; 2190-3883
• DOI: 10.1007/BF03195731

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.