Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

• Autorzy: Bogdanowicz J , Pawlowska B , Ilnicka A , Gawlik-Zawislak S , Jozwiak A , Sobiczewska B , Zdzienicka E , Korniszewski L , Zaremba J
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

PL

fluorescence in situ hybridization; deletion; patient; intellectual disability; dismorphic feature; subtelomeric rearrangement; comparative genomic hybridization; clinical symptom; Polish patient

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 2
• Strony: 215-217
• Opis fizyczny: p.215-217,ref.

Twórcy

autor

Bogdanowicz J

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Pawlowska B

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Ilnicka A

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Gawlik-Zawislak S

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Jozwiak A

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Sobiczewska B

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Zdzienicka E

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Korniszewski L

• Institute of Physiology and Pathology of Hearing, Department of Genetics, Warsaw, Poland

autor

Zaremba J

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

Bibliografia

• Fan YS, Zhang Y, Speevak M, Farrell S, Jung J, Siu V, 2001. Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. Genetics in Medicine 3: 416-421.
• Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, Mc Dermid HE, 1995. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9: 132-139.
• Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, et al. 1997. Molecular-cytogenetic detection of a deletion of 1p36.3 leads to a revised estimate of the frequency of subtelomeric rearrangements in idiopathic mental retardation. J Med Genet 34: 314-317.
• [ISCN] An International System for Human Cytogenetic Nomenclature, 2009. Ed.: Shaffer LG, Slovak ML, Campbell LJ, KARGER, Basel: 111.
• Karnebeek CDM, Jansweijer M, Leenders A, Offringa M, Hennekam R, 2005. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 13, 6-25.
• Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A, 2001. Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 109: 286-94.
• Shaffer LG, Lupski JR, 2000. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34: 297-329.