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
• 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

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