Recombinant chromosome 14 due to maternal pericentric inversion

• Autorzy: Sliuzas V , Utkus A , Kucinskas V
• Języki publikacji: EN

Abstrakty

EN

Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband’s G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.lqter). This abnormality has been confirmed by custom ВАС FISH analysis. His mother’s karyotype was 46,XX,inv(14)(p11.2q32.1).

Słowa kluczowe

EN

recombinant chromosome; chromosome 14; pericentric inversion; congenital malformation

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2008
• Tom: 49
• Numer: 2
• Opis fizyczny: p.205-207,fig.,ref.

Twórcy

autor

Sliuzas V

• Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskir 2, LT-08661, Vilnius, Lithuania
• Centre for Medical Genetics, Vilnius University Hospital, Santariskiu Clinics, Vilnius, Lithuania

autor

Utkus A

• Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskir 2, LT-08661, Vilnius, Lithuania
• Centre for Medical Genetics, Vilnius University Hospital, Santariskiu Clinics, Vilnius, Lithuania

autor

Kucinskas V

• Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskir 2, LT-08661, Vilnius, Lithuania
• Centre for Medical Genetics, Vilnius University Hospital, Santariskiu Clinics, Vilnius, Lithuania

Bibliografia

• Chen C-P, Chern S-R, Lin S-P, Lin C-C, Li Y-C, Wang T-H et al. 2005. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion. Am J Med Genet 139: 146-150.
• Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, et al. 2003. The DNA sequence and analysis of human chromosome 14. Nature 421: 601-607.
• [ISCN] International System for Human Cytogenetic Nomenclature, 2005. Shaffer LG, Tommerup N, eds. Karger, Basel.
• Kirchhoff M, Gerdes T, Maahr J, Rose H, Lundstreen C, 1997. Automatic correction of the interfering effect of unsuppressed interspersed repetitive sequences in comparative genomic hybridization analysis. Cytometry 28: 130-134.
• Leach NT, Cole SM, Sandstorm DJ, Weremowicz S, 2005. A novel pericentric inversion of chromosome 14 involving the rRNA gene cluster. Prenat Diagn 25: 620-621.
• Schinzel A, 2001. Catalogue of unbalanced chromosome aberrations in man. Berlin: de Gruyter: 613-615.
• Sonoda T, Kouno K, Sawada K, Sugimoto T, 2001. Distal 14q trisomy due to a maternal derivative chromosome 14. Pediatr Int 43: 313-315.